Find link

language: af: Afrikaans als: Alemannisch [Alemannic] am: አማርኛ [Amharic] an: aragonés [Aragonese] ar: العربية [Arabic] arz: مصرى [Egyptian Arabic] as: অসমীয়া [Assamese] ast: asturianu [Asturian] az: azərbaycanca [Azerbaijani] azb: تۆرکجه [Southern Azerbaijani] ba: башҡортса [Bashkir] bar: Boarisch [Bavarian] bat-smg: žemaitėška [Samogitian] be: беларуская [Belarusian] be-tarask: беларуская (тарашкевіца) [Belarusian (Taraškievica)] bg: български [Bulgarian] bn: বাংলা [Bengali] bpy: বিষ্ণুপ্রিয়া মণিপুরী [Bishnupriya Manipuri] br: brezhoneg [Breton] bs: bosanski [Bosnian] bug: ᨅᨔ ᨕᨘᨁᨗ [Buginese] ca: català [Catalan] ce: нохчийн [Chechen] ceb: Cebuano ckb: کوردیی ناوەندی [Kurdish (Sorani)] cs: čeština [Czech] cv: Чӑвашла [Chuvash] cy: Cymraeg [Welsh] da: dansk [Danish] de: Deutsch [German] el: Ελληνικά [Greek] en: English eo: Esperanto es: español [Spanish] et: eesti [Estonian] eu: euskara [Basque] fa: فارسی [Persian] fi: suomi [Finnish] fo: føroyskt [Faroese] fr: français [French] fy: Frysk [West Frisian] ga: Gaeilge [Irish] gd: Gàidhlig [Scottish Gaelic] gl: galego [Galician] gu: ગુજરાતી [Gujarati] he: עברית [Hebrew] hi: हिन्दी [Hindi] hr: hrvatski [Croatian] hsb: hornjoserbsce [Upper Sorbian] ht: Kreyòl ayisyen [Haitian] hu: magyar [Hungarian] hy: Հայերեն [Armenian] ia: interlingua [Interlingua] id: Bahasa Indonesia [Indonesian] io: Ido is: íslenska [Icelandic] it: italiano [Italian] ja: 日本語 [Japanese] jv: Basa Jawa [Javanese] ka: ქართული [Georgian] kk: қазақша [Kazakh] kn: ಕನ್ನಡ [Kannada] ko: 한국어 [Korean] ku: Kurdî [Kurdish (Kurmanji)] ky: Кыргызча [Kirghiz] la: Latina [Latin] lb: Lëtzebuergesch [Luxembourgish] li: Limburgs [Limburgish] lmo: lumbaart [Lombard] lt: lietuvių [Lithuanian] lv: latviešu [Latvian] map-bms: Basa Banyumasan [Banyumasan] mg: Malagasy min: Baso Minangkabau [Minangkabau] mk: македонски [Macedonian] ml: മലയാളം [Malayalam] mn: монгол [Mongolian] mr: मराठी [Marathi] mrj: кырык мары [Hill Mari] ms: Bahasa Melayu [Malay] my: မြန်မာဘာသာ [Burmese] mzn: مازِرونی [Mazandarani] nah: Nāhuatl [Nahuatl] nap: Napulitano [Neapolitan] nds: Plattdüütsch [Low Saxon] ne: नेपाली [Nepali] new: नेपाल भाषा [Newar] nl: Nederlands [Dutch] nn: norsk nynorsk [Norwegian (Nynorsk)] no: norsk bokmål [Norwegian (Bokmål)] oc: occitan [Occitan] or: ଓଡ଼ିଆ [Oriya] os: Ирон [Ossetian] pa: ਪੰਜਾਬੀ [Eastern Punjabi] pl: polski [Polish] pms: Piemontèis [Piedmontese] pnb: پنجابی [Western Punjabi] pt: português [Portuguese] qu: Runa Simi [Quechua] ro: română [Romanian] ru: русский [Russian] sa: संस्कृतम् [Sanskrit] sah: саха тыла [Sakha] scn: sicilianu [Sicilian] sco: Scots sh: srpskohrvatski / српскохрватски [Serbo-Croatian] si: සිංහල [Sinhalese] simple: Simple English sk: slovenčina [Slovak] sl: slovenščina [Slovenian] sq: shqip [Albanian] sr: српски / srpski [Serbian] su: Basa Sunda [Sundanese] sv: svenska [Swedish] sw: Kiswahili [Swahili] ta: தமிழ் [Tamil] te: తెలుగు [Telugu] tg: тоҷикӣ [Tajik] th: ไทย [Thai] tl: Tagalog tr: Türkçe [Turkish] tt: татарча/tatarça [Tatar] uk: українська [Ukrainian] ur: اردو [Urdu] uz: oʻzbekcha/ўзбекча [Uzbek] vec: vèneto [Venetian] vi: Tiếng Việt [Vietnamese] vo: Volapük wa: walon [Walloon] war: Winaray [Waray] yi: ייִדיש [Yiddish] yo: Yorùbá [Yoruba] zh: 中文 [Chinese] zh-min-nan: Bân-lâm-gú [Min Nan] zh-yue: 粵語 [Cantonese]

jump to random article

searching for Missense mutation 369 found (558 total)

alternate case: missense mutation

Pangaré (480 words) [view diff] exact match in snippet view article find links to article

donkeys, no light points (loss of pangare) is caused by a recessive missense mutation at agouti. The light points (pangare) color is similar to the light

Desnick RJ, Takada G, Schuchman EH (1993). "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient

Apolipoprotein B deficiency is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein

(MPS) and bi-directional sanger sequence analysis. A heterozygous missense mutation of Leu132Pro in the KRT12 gene exhibits a more severe phenotype while

McKinlay Gardner R, Hand P, Forrest S (2000). "Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem"

human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity". Human Molecular Genetics. 2 (7): 941–6

Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and

X-linked non-syndromic deafness (DFN-3). These known mutations include: Missense mutation causing the substitution of amino acid glycine for glutamic acid at

reduction in CD59 expression results from a cysteine to tyrosine missense mutation, which prevents disulfide bridge formation, ultimately disrupting

by which the mutation may arise. Recently, a study involving the missense mutation of a PAX9 gene suggests that the loss of function due to the absence

histo-blood group system. II. Secretor gene inactivation by a novel single missense mutation A385T in Japanese nonsecretor individuals". J. Biol. Chem. 271 (16):

Nawaz S, Jameel M, Tariq M, Malik NA, Baig SM, Dahl N (2012) Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic

Martiniuk F, Tzall S, Hirschhorn R (September 1991). "Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease

PMID 17537911. Fauret AL, Tuleja E, Jeunemaitre X, Vignes S (2010). "A novel missense mutation and two microrearrangements in the FOXC2 gene of three families with

EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM (1998). "A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital

"Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". The Journal of Biological

"Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate". Neuromuscul. Disord. 8 (1): 30–8. doi:10

Oldfors A, Darin N, et al. (2001). "Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene". Proc. Natl

the appearance of Fanconi syndrome phenotypes which occurs due to a missense mutation of the gene. Hepatocyte nuclear factor 4 alpha has been shown to interact

caused by genetics All of the individuals have a missense mutation but the location of the missense mutation determines the severity of the syndrome because

Matsubara, Y; Narisawa, K (1998). "A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic

short and kinked tails in Asian Domestic Cats. Homozygotes for a V2A missense mutation in a conserved vertebrate sequence of HES7 resulted in kinked tails

Mortlock DP, Sateesh P, et al. (May 2002). "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies

enzyme has missense mutation and in-frame deletions from the 3’ end, fumarase deficiency results. If it contains heterozygous 5’ missense mutation and deletions

spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2". J. Invest. Dermatol. 123 (5): 856–63. doi:10.1111/j.0022-202X

"Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion". American Journal of Human Genetics

inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene" (PDF). The British Journal of Ophthalmology. 92

Mitchell G, Mercier J, Marion JF, Drouin E, et al. (December 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

"Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation". Mol. Psychiatry. 15 (12): 1190–6. doi:10.1038/mp.2009.120. PMID 19901951

PMID 7738094. Chagnon P, Michaud J, Mitchell G, et al. (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

Ray K, Whyte MP, Lafferty MA, Mulivor RA, et al. (October 1988). "A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a

(Mar 1992). "Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the

when heterozygous. --> Metallinos DL, Bowling AT, Rine J (1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White

Raynal V, Parkes J, Saul A, Cartron JP (Feb 1998). "A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull

genetic causes of nonketotic hyperglycinemia. . In more rare cases, a missense mutation in the genetic code of the T-protein, causing the histidine in position

Anshasi W, et al. (June 2015). "Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical

PMID 7608265. Katsumata N, Tanae A, Yasunaga T, et al. (1995). "A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family

Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP (1996). "A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension

are Golabi-Ito-Hall syndrome of intellectual disability caused by missense mutation in a WW domain and Liddle syndrome of hypertension caused by point

introduces a stop codon in exon 7. In addition to the rd1 mouse, a missense mutation (R560C) in exon 13 of the Pde6b gene is the character of another animal

Gerniers S, Naeyaert JM, De Paepe A (2002). "Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa". Human

PMID 12163196. S2CID 44994475. Ki CS, Lee WY, Han DH, et al. (2002). "A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant

Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP (1996). "A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension

Wimplinger I, Shaw GM, Kutsche K (2007). "HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel

NG (Feb 2000). "Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion". Neuromuscular Disorders. 10 (2): 100–7. doi:10

A. (2004). ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene Wiley-Blackwell. doi:10.1111/j.1365-2230.2004

PMID 11851874. Chagnon P, Michaud J, Mitchell G, et al. (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

"Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R". Journal of Inherited Metabolic Disease. 34 (1): 225–31. doi:10

2008). "Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1". American Journal of Medical Genetics. Part A. 146A (17):

Lundblad A, Larson G, Påhlsson P (August 2001). "Identification of a missense mutation (G329A;Arg(110)--> GLN) in the human FUT7 gene". The Journal of Biological

expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Although

analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region". Mutation Research

S2CID 23979186. Martin N, Jaubert J, Gounon P, et al. (2002). "A missense mutation in Tbce causes progressive motor neuronopathy in mice". Nat. Genet

"Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene". J Neurol Sci. 241 (1–2): 13–7. doi:10.1016/j.jns

disease that has to do with the fusion of the fingers and toes. A missense mutation in the second exon of the FGF9 gene, the S99N mutation, seems to be

needed] This is the result of a mutation in the FOXC2 gene.  p.Y41F, a missense mutation, is also located in FOXC2 AD-1. p.Y41F is one of eleven mutations

Steijlen PM, Bladergroen RS, Vermeer M, van Geel M (March 2005). "A missense mutation in the type II hair keratin hHb3 is associated with monilethrix".

1996). "Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase". The Journal

S2CID 23146564. Rivolta C, Sweklo EA, Berson EL, Dryja TP (2001). "Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa

Mutchinick O (2005). "Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of Tp63". American Journal of Medical

Koda Y, Soejima M, Johnson PH, Smart E, Kimura H (September 1997). "Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype

Wong LK, Ngo JC, Lau KF, Chan TF, Chan HY (September 2014). "A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of

Boxer M, Burchell B (October 1993). "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome

Boxer M, Burchell B (October 1993). "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome

JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (Dec 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

"Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease". EMBO J. 10 (1): 51–8. doi:10.1002/j.1460-2075

PMID 11256614. König A, Happle R, Fink-Puches R, et al. (2002). "A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost

patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene". American Journal of Medical Genetics Part A. 135

PMID 2363434. Metallinos, DL; Bowling AT; Rine J (June 1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White

PMID 7827138. Seo HC, Yang M, Tonlorenzi R, et al. (1995). "A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an

M106510200. PMID 11551941. Bommel H, Xie G, Rossoll W, et al. (2003). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant

I, Shaw GM, Kutsche K, et al. (Aug 2007). "HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel

Lindsey DT, et al. (1993). "Defective colour vision associated with a missense mutation in the human green visual pigment gene". Nat. Genet. 1 (4): 251–6

DYRK1B has been shown to interact with: PCBD1 and RANBP9. One lone missense mutation in Dyrk1B gene (R102C) was found associated with an autosomal dominant

PMID 8307584. Dryja TP, Hahn LB, Reboul T, Arnaud B (1996). "Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret

1155/2020/2067186 Ibrahim DM, Tayebi N, Knaus A, et al. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation

Clarke DJ, Boxer M, Burchell B (1994). "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome

1996). "A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein

Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (June 1999). "Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas

"Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion". Blood. 102 (13): 4413–4415

Marklund, L.; M. Johansson Moller; K. Sandberg; L. Andersson (1996). "A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is

respiratory infections in Arts syndrome is unclear.[citation needed] Novel missense mutation - c.367C>G (p.His123Asp) c.455T→C (p. L152P), c.398A→C (p.Q133P) p

Noguchi M, Berg M, Rudloff HE, Denney RM, et al. (March 1995). "Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of

acids and other molecules that are potentially toxic when unbound. A missense mutation within exon 3 of the human FABP1 gene results in a Thr to Ala substitution

software, the heterozygous missense mutation of the LZTR1 gene at exon 4 was the most pathogenic. This missense mutation will lead to a substitution

an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB)". Hum. Genet. 101 (2): 170–4. doi:10

type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family". Arch Neurol. 60 (4): 610–4. doi:10

S2CID 13709685. Han B, Zhang X, Liu Q, et al. (2007). "Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis". Acta

et al. (1995). "Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene". Am.

Knisely AS, Vanderdoelen M, Juijn J, Berger R, et al. (2001). "A missense mutation in FIC1 is associated with greenland familial cholestasis". Hepatology

spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3". Journal of Human Genetics. 51 (10): 846–50. doi:10

disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels". The Journal of Investigative

PMID 12205089. Chagnon P, Michaud J, Mitchell G, et al. (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (2003). "A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis"

PMID 15735604. Sokal I, Dupps WJ, Grassi MA, et al. (2005). "A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy

been identified as a susceptibility gene for sick sinus syndrome. A missense mutation at Arg721Trp was identified as conferring a lifetime risk of 50% for

shown to interact with ERBB3 and LIMK1. A schizophrenia associated- missense mutation in Neuregulin 1 has been shown to be associated with changes in cytokine

Akiyama J, Roberds SL, Campbell KP, Zatz M (Jul 1995). "A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively

(OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene" (PDF). Am J Med Genet. 70 (3): 315–23. doi:10

Vincent, J. B.; Speicher, M. R.; Gönczy, P; Windpassinger, C (2014). "A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly

PMID 17332895. López-Martín JM, Salviati L, Trevisson E, et al. (2007). "Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine

Broeckhoven C, Timmerman V, Topaloglu H (2002). "A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive

"X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L". Br. J. Haematol. 115 (4): 910–7

PMID 17332895. López-Martín JM, Salviati L, Trevisson E, et al. (2007). "Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine

PMID 12477932. Chagnon P, Michaud J, Mitchell G, et al. (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

et al. (1999). "Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene". Clin. Exp

PMID 15057823. Bennett TM, Mackay DS, Knopf HL, Shiels A (2004). "A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with

White, Kenneth E.; Econs, Michael J. (2007-09-04). "A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis". Journal of Clinical

phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency"

PMID 11394870. Zheng Y, Zhou C, Huang Y, et al. (2009). "A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder". Int

49.29498. PMID 7493990. Ashida A, Owada M, Hatakeyama K (1995). "A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient

a missense point mutation in exon 13 (6 cases in 3 families) or a missense mutation in exon 16 ( seven cases in 3 families). One of the latter cases survived

Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y (December 2008). "A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant

variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance". J. Cell. Physiol. 217 (3): 605–17. doi:10.1002/jcp

Tripathi RK, King RA, Spritz RA (March 1991). "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue

Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S (Apr 1998). "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular

Xie G, Rossoll W, Wiese S, Jablonka S, Boehm T, Sendtner M (2003). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant

Nick; James, Louise; Mant, Rebecca (February 1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

located in the trans-golgi network of melanocytes. Tiger-eye 1 is a missense mutation (c.272A>T and p.Phe91Tyr) in which a single adenine is replaced with

Magen D, Sprecher E, Zelikovic I, Skorecki K (January 2005). "A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria

M, Peltonen L (June 2005). "Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1". Hum. Mol. Genet. 14 (11): 1475–88. doi:10

Issad T, Camoin L, Ozata M, Strosberg AD (March 1998). "A leptin missense mutation associated with hypogonadism and morbid obesity". Nature Genetics

precursor lesion suggesting early involvement of this gene. Also many missense mutation and mutation in PI3K and PP2A genes are involved which also contribute

PMID 16481406. Baris I, Arisoy AE, Smith A, et al. (2006). "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism

Hilal L, Rochat A, Prost C, Barrandon Y, Goossens M (April 1993). "A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis

Rossor, Martin; Owen, Mike; Hardy, John (1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

Lutz C, Beattie CE, Pellizzoni L, Burghes AH (June 2009). "A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice". Human Molecular

unlinked to the FRAS1 gene, Jadeja et al. (2005) found a homozygous missense mutation in the FREM2 gene (608945.0001). In an infant girl with Fraser syndrome

Fisher CR, et al. (1991). "A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive

B.; Lane, D.A.; Machin, S.J. (2008). "Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura". Thrombosis

(1997). "A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triaglyceride transfer protein

Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR (1999). "A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and

S2CID 7836461. Nawaz S, Klar J, Wajid M, et al. (2009). "WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome"

Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR (2005). "A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry

R, Oh A, et al. (March 2021). "Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness

non-compaction cardiomyopathy, a missense mutation, Glu882Lys, was identified in ITGA7 along with a missense mutation in MYH7B, both novel disease genes

"Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R". Journal of Inherited Metabolic Disease. 34 (1): 225–231. doi:10

Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y (1997). "Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with

; Hahn, Lauri B.; Reboul, Thierry; Arnaud, Bernard (July 1996). "Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret

2 homozygous siblings diagnosed with GAPO syndrome carrying a new missense mutation. This mutation produces the substitution of a glutamine in position

Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell P (1994). "A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine

J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A (May 1999). "A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation"

Nakagawa T, Fujitani Y, Kajimoto Y, Takasu N, Nanjo K (Dec 2001). "A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese"

JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (Dec 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

PMID 11326335. Sugawara T, Tsurubuchi Y, Agarwala KL, et al. (2001). "A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile

1998). "Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene". Human Genetics. 102 (1): 57–62. doi:10

S2CID 24716859. Metallinos, DL; Bowling, AT; Rine, J (June 1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White

Grant R.; Scheffer, Ingrid E.; Berkovic, Samuel F. (1995-10-01). "A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated

sphingomyelinase II)". Chagnon P, Michaud J, Mitchell G, et al. (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

Mitchell G, Mercier J, Marion JF, Drouin E, et al. (December 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

Mandel JL, Aubourg P (1994). "Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy". Hum. Mol. Genet.

skeletal anomalies and umbilical hernia. In some cases, a de novo missense mutation in EED was associated with decreased levels of H3K27me3 in comparison

AM, Rodrigues NR, Surtees R, Mountford R, Davies KE (March 1997). "Missense mutation clustering in the survival motor neuron gene: a role for a conserved

"Positional Candidate Cloning of a QTL in Dairy Cattle: Identification of a Missense Mutation in the Bovine DGAT1 Gene with Major Effect on Milk Yield and Composition"

PMID 31006892. Sevane; Sanz; Dunner (2019). "Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses"

endosomal sorting complex required for transport (ESCRT) system. A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary

be vasoconstriction or microvascular injury brought on by cold. A missense mutation in TREX1, encoding the 3′–5′ repair exonuclease 1, was found in affected

PMID 2351675. Steinlein OK, Mulley JC, Propping P, et al. (1995). "A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is

van Wijk JA, Block D, van Hagen JM, Ludwig M (Dec 2005). "R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia"

H, Fouanon C, Herbert O, Moisan JP, Le Roux MG, Pascal O (1994). "Missense mutation in the choroideremia gene". Hum. Mol. Genet. 3 (6): 1017. doi:10.1093/hmg/3

Gat-Yablonski G, Dror N, Singer A, Phillip M (2014). "A novel MKRN3 missense mutation causing familial precocious puberty". Hum. Reprod. 29 (12): 2838–43

composition consistent with a loss of function. ClinVar reports a missense mutation that produces an early stop codon (Trp392Ter) is associated with Meckel-like

PMID 16344560. Longo-Guess CM, Gagnon LH, Cook SA, et al. (2005). "A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry

Moffatt P (2015) Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. Am J Hum Genet 96(3):425-431. doi: 10.1016/j.ajhg.2014.12

addition or deletion mutation that resulted in a frame shift, a single missense mutation and in the milder form mentioned above, a single codon change that

PMID 16344560. Longo-Guess CM, Gagnon LH, Cook SA, et al. (2005). "A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry

Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC (May 1998). "Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen

Rossoll W, Wiese S, Jablonka S, Boehm T, Sendtner M (November 2002). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant

genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene". Archives of Dermatological

Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N (1998). "A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic

PMID 16344560. Longo-Guess CM, Gagnon LH, Cook SA, et al. (2005). "A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry

04.054. PMID 23707431. Wijesena HR, Schmutz SM (May–June 2015). "A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired

PMID 12477932. Konno T, Shimizu M, Ino H, et al. (2003). "A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic

Khan J, Milner JD, Kastner DL, Aksentijevich I (2012) A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited

M, Kabacam S, Demircan S, Alikasifoglu M (October 2016). "A novel missense mutation of the GRK1 gene in Oguchi disease". Molecular Medicine Reports. 14

(June 2002). "A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene

family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile

M, Kabacam S, Demircan S, Alikasifoglu M (October 2016). "A novel missense mutation of the GRK1 gene in Oguchi disease". Molecular Medicine Reports. 14

hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation". Cell. 62 (5): 999–1006. doi:10.1016/0092-8674(90)90274-i. PMID 1975517

Schwartz CE (June 2006). "Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene". Journal of Medical Genetics.

PMID 11532191. Pras E, Levy-Nissenbaum E, Bakhan T, et al. (2002). "A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile

van Steensel MA, Steijlen PM, et al. (December 2005). "A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes

AS. In Old Order Amish families, a homozygous proline to leucine missense mutation within the first RLD domain has been implicated in a neurodevelopmental

S2CID 1755908. Marklund, L; Moller MJ; Sandberg K; Andersson L (Dec 1996). "A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is

Dixon PH, Weerasekera N, Linton KJ, et al. (2000). "Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for

Andersson K, Weening RS, van Zwieten R, Larsson A, Roos D (Apr 2000). "A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes

Gromeier S, Jaross W (2000). "18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online"

Schmutz, Sheila M.; Thue, Tracey D.; Buchanan, Fiona C. (1999). "A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian

incorrectly. A nonsense mutation, a single nucleotide insertion, and a missense mutation have all been found to produce essentially the same inactivation of

Longo-Guess CM, Gagnon LH, Cook SA, Wu J, Zheng QY, Johnson KR (2005). "A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry

; Kausar, N.; Rafiq, M. A.; Amin, M.; Ahmad, W. (2007). "A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in

(Jan 2008). "Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability". American Journal of Medical

MC, Mollet G, Saunier S, Antignac C (November 2014). "A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS". J. Am. Soc. Nephrol

PMID 20598683. Al-Dosari M, Alkuraya FS (October 2009). "A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable

1167/iovs.06-1019. PMID 17460281. Wang J; Ma X; Gu F; et al. (2007). "A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract"

confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle"

McVey JH, Elliott JI, Sardini A, Kasza I, Mumford AD, et al. A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine

Andersson L, Cothran G, Sandberg K, Mikko S, Lindgren G (2006). "A missense mutation in PMEL17 is associated with the Silver coat color in the horse".

digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13". Journal of

Rødahl E, Boman H (2010). "Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene". Invest. Ophthalmol. Vis. Sci. 51 (1):

St Clair D, Gurling HM (December 2008). "A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with

C1-inhibitor is caused by a mutation of the plasminogen gene, namely a rare missense mutation within the kringle 3 domain of plasminogen, resulting in a novel type

Fischer-Posovszky P, von Schnurbein J, Moepps B, et al. (June 2010). "A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting

Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T (March 2013). "Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated

Sahin-Calapoglu N, Andreasen D, et al. (2005). "A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein"

Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery–Dreifuss muscular dystrophy". Eur. J. Biochem. 271

ISSN 0092-8674. PMID 15734686. Goate A; et al. (1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

Butzow, R; Ashworth, A; Stratton, M. R.; Aaltonen, L. A. (1998). "A missense mutation in the BRCA2 gene in three siblings with ovarian cancer". British

Y, Nagata S, Kishimoto T, Yamauchi-Takihara K (Feb 1997). "Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic

D; Brooks S; Bellone R; Bailey E (2008). Barsh, Gregory S. (ed.). "Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses"

Clair A. (July 1991). "Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene". Nature. 352 (6333): 337–339. Bibcode:1991Natur

Ruiter JP, Hoovers JM, Jakobs ME, Wanders RJ (August 1996). "Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization

Waxman SG (June 2015). "The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human

S, Medugorac I, Röther S, Strässer K, Förster M (April 2007). "A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal

demonstrating epileptic encephalopathy was sequenced and revealed a de novo missense mutation, p.Asn1768Asp. The missense mutations in Nav1.6 increased channel

The EDAR V370A isoform arises from a single nucleotide polymorphism/missense mutation which changes the 370 Valine residue to an Alanine on the EDAR gene

Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A (Aug 1998). "Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families

C, Shimada K, Yokoi T, Akaboshi I, Matsuda I (May 1991). "A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated

Lerman-Sagie T, Leshinsky-Silver E (Dec 2012). "A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus

in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene". Biochemical and Biophysical Research

24 with typical FISH/MPLA results. The geneticists examined how a missense mutation would affect the function of the DNA by looking at DNA models. After

Baccouche D, Ben Osman A, Dellagi K, Abdelhak S (December 2003). "A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern

(1998). "Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA". Hum. Mol. Genet. 7 (3):

SW, Seidman JG, Seidman CE (Aug 1996). "A human MSX1 homeodomain missense mutation causes selective tooth agenesis". Nature Genetics. 13 (4): 417–421

Nakano I, Nishizawa M (January 2004). "Identification of a SACS gene missense mutation in ARSACS". Neurology. 62 (1): 107–9. doi:10.1212/01.wnl.0000099371

2010. Cook D, Brooks S, Bellone R, Bailey E (2008). Barsh GS (ed.). "Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses"

December 1, 2007 Metallinos DL, Bowling AT, Rine J (Jun 1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White

progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2". American Journal of

Gultekin, G; Raj, K; Lehman, S; Hillstrom, A; Giger, U (December 2012). "Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency

case with a truncating mutation, and in the other a non-sense or missense mutation. In the latter case, the authors proposed that homozygous truncating

effect that was remedied upon proteasome inhibition via epoxomicin. A missense mutation in ANKRD1 was shown to be associated with the congenital heart defect

PMID 11991638. Chagnon P, Michaud J, Mitchell G, et al. (2003). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

anaerobic metabolic dysfunction. This dysfunction results from a missense mutation that effects the encoded TPI protein. The most common mutation is

Cleft lip and/or palate (CLP) genome wide gene analysis shows a D73H missense mutation in the FGF8 gene which reduces the binding affinity of FGF8. Loss

Genetics, 9, 2223-2229 (2000). Merienne, K, […], Mandel, J.-L. et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

org/10.1016/S0140-6736(88)92178-2 Goate, A. et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP (May 2001). "A missense mutation in a novel gene encoding a putative cation channel is associated with

"Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1". Hum. Mol. Genet. 10 (22): 2509–14

type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene". American Journal of Human Genetics. 82 (4): 809–21

Y., Lin, A.N., Dietz, H.C., Hovnanian, A., & Uitto, J (1993). A missense mutation in type VII collagen in two affected siblings with recessive dystrophic

Lorenzoni PJ, Heister A, van der Kemp AW, et al. (April 2009). "A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is

MacKenzie JJ, Fitzpatrick J, Ray PN, Roifman CM (June 2001). "A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal

(OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene" (PDF). American Journal of Medical Genetics.

Hu ZW, Xu YM (August 2018). "Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification"

splice-sites. According to a research study conducted Hutton, M et al, a missense mutation occurring on the 5' region of the RNA associated with the tau protein

Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (2003). "A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis"

(Dec 1998). "X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon

Dolphin CT, Janmohamed A, Smith RL, Shephard EA, Phillips IR (1997). "Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour

enzyme. T24 bladder cancer cells, for example, were shown to have a missense mutation, G12V, resulting in constitutively active Ras protein. Despite the

developmental delay CASTHL syndrome is caused by a dominant loss-of-function missense mutation of FGFR3 gene. It is known that FGFR3 negatively regulates bone growth

Dolphin CT, Janmohamed A, Smith RL, Shephard EA, Phillips IR (1997). "Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour

developmental delay, delayed motor development and mental retardation. A missense mutation of c.215A>G in the COA3 gene has been found to result in a severe

dislocation and Hirschsprung's disease. Genetic testing revealed a missense mutation (p.P240L) in exon 7 of the L1CAM gene. "X-linked complicated corpus

variants can result in azoospermia, or not motile sperm. To elaborate, a missense mutation, which resulted in a premature stop codon, leading to a complete loss

Cryopyrin-associated periodic syndromes are associated with a gain-of-function missense mutation in exon 3 of NLRP3, the gene encoding cryopyrin, a major component

respond to visual input and produce achromatopsia. At least one other missense mutation outside of the S1 region, T224R, also leads to loss of function. While

for the disorder is the FGFR3 gene, more specifically; a Lys650Met missense mutation of the FGFR3 gene is what causes SADDAN. This gene codes for the instructions

syndrome: phenotypic variability in two families carrying the same PDS missense mutation". American Journal of Medical Genetics. 90 (1): 38–44. doi:10

Aksakal B, Oztas M, Gürer MA, Celebi JT (October 2003). "A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome". The Journal of

which increased Ca2+ sensitivity of the contractile apparatus. A missense mutation R174Q, a nonsense mutation R156X, and three single residue deletions

Evaluation of candidate genes within this interval identified a homozygous missense mutation in SOBP in patients with MARMS syndrome. The mutation truncates the

In these cases, the SARS gene (in particular, "SARS2") undergoes a missense mutation, which results in a complete lack of acetylated seryl-tRNA synthetase

Wallace R, Phillips H, Sutherland G, Scheffer I, Berkovic S (1995). "A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is

Weinberger DR, Wang M, Quillian H, et al. (December 2020). "Association of Missense Mutation in FOLH1 With Decreased NAAG Levels and Impaired Working Memory Circuitry

November 18, 2017. Metallinos, DL; Bowling AT; Rine J (June 1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White

Drugan A, Boneh A, Tada K, Matsubara Y, Narisawa K (Apr 1998). "A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred

transcribed pseudogene due to a premature stop codon. However, a missense mutation T1526G or T1526C in RESA-2 that removes this stop codon is commly

Stone SJ, Jiang ZG, Wang C, Figeys D, Jia W, Yao Z (Aug 2011). "Missense mutation in APOC3 within the C-terminal lipid binding domain of human ApoC-III

shown to arise from TMC1 mutations. DFNA36 results from a dominant missense mutation and DFNB7/B11 results from a recessive mutation. Both have been modeled

Chan KY, Tong SF, Chan BY, Chan YT, Chan YW (July 2000). "A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in

also critical for the development of lymphocytes. Mice with a Y158C missense mutation in Kdelr1 have reduced numbers of B and T lymphocytes, and a more

Nishina S, Yanagisawa H, Okuyama T, Yamada M (June 1996). "PAX6 missense mutation in isolated foveal hypoplasia". Nature Genetics. 13 (2): 141–2. doi:10

PMID 9388506. Matsuda A, Kosugi S (December 1997). "A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect"

an autosomal dominant mode of inheritance. It is associated with a missense mutation in human PER2 that replaces serine for glycine at position 662 (S662G)

deWit, Damiane; Yanagisawa, Masashi; Chakravarti, Aravinda (1994). "A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease"

causes late-onset retinal degeneration. More specifically, a single missense mutation (S163R) in the encoded C1QTNF5 protein causes the Late-onset retinal

signaling: In half of melanoma cells, the B-Raf protein contains a missense mutation (V600E mutation), which is responsible for cell transformation, invasion

PMID 7598711. Shih VE, Fringer JM, Mandell R, et al. (1995). "A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive

(February 1995). "Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene". Nature Genetics. 9 (2):

S2CID 4332080. Dinauer MC, Curnutte JT, Rosen H, Orkin SH (December 1989). "A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive

Niederle, Bruno; Christ, Emanuel; Jenni, Stefan (30 January 2018). "MAFA missense mutation causes familial insulinomatosis and diabetes mellitus". Proceedings

PMID 11961028. Shimizu J, Tanaka H, Aya K, Ito S, Sado Y, Seino Y (2002). "A missense mutation in the nephrin gene impairs membrane targeting". Am. J. Kidney Dis

S2CID 4332080. Dinauer MC, Curnutte JT, Rosen H, Orkin SH (December 1989). "A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive

and genes involved in glucose uptake and metabolism. A new novel missense mutation in VHL genes c.194 C>T, c.239 G>A, c.278 G>A, c.319 C>G, c.337 C>G

transmembrane segments. SCID patients are homozygous for a single missense mutation in ORAI1, and expression of wild-type ORAI1 in SCID T cells restores

Bannasch DL (July 2007). "Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American

Weirong; Zhao, Sihai; Wang, Rong; Liu, Enqi (2023-06-02). "A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair

M, Hashimoto N, Suzuki Y, Tokuyama Y, et al. (September 1998). "A missense mutation in the CD38 gene, a novel factor for insulin secretion: association

Butzow, R; Ashworth, A; Stratton, M. R.; Aaltonen, L. A. (1998). "A missense mutation in the BRCA2 gene in three siblings with ovarian cancer". British

Benslimane A, Amor-Guéret M (2000). "Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome". Hum. Mutat

Bacares, Ruben; Ladanyi, Marc; Zhang, Liying (2015-04-01). "BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Creation

1980, S. 85–98 O. K. Steinlein, J. C. Mulley, P. Propping, et al: A missense mutation in the neuronal nicotinic acetylcholine receptor a4 subunit is associated

been linked to nonsyndromic hearing loss, including Met305Thr. A missense mutation in ACTG1 at Ser155Phe has also been identified in patients with Baraitser-Winter

Vissing J (October 2001). "Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene". Ann. Neurol. 50 (4): 540–3

21-hydroxylase, which catalyzes steroid 21-hydroxylation. Another POR missense mutation Y181D has also been identified. Fifteen of nineteen patients having

Giuffra L, Haynes A, Irving N, James L (1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

Houtkooper, Riekelt H.; Plomp, Astrid S. (2017-07-01). "A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault

P, Scambler PJ, McKinnon W, Guttmacher AE. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies

polypeptide in beta cells. Two siblings carrying a homozygous PITRM1 missense mutation (c.548G>A, p.Arg183Gln) were reported to be associated with an autosomal

Deguchi T, Horinouchi S, Yamazaki K, et al. (December 2002). "A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis

MC, Tifft CJ, Goldstein A, et al. (Feb 2018). "A recurrent de novo missense mutation in UBTF causes developmental neuroregression". EMBO J. 27 (4): 691–705

its genetic sequence to the wild-type gene. However, PTENP1 has a missense mutation which eliminates the codon for the initiating methionine and thus

Rossoll W, Wiese S, Jablonka S, Boehm T, Sendtner M (November 2002). "Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant

light chain (FTL) polypeptide gene while the fourth arises from a missense mutation in the FTL gene. Neuroferritinopathy is most commonly diagnosed using

Patricia J.; Caskey, C. Thomas; Hess, J. Fred (1996). "Leptin receptor missense mutation in the fatty Zucker rat". Nature Genetics. 13 (1): 18–19. doi:10.1038/ng0596-18

Château D, Chapon F, Tomé FMS, Dupret J-M, Paulin D, Fardeau M, « A missense mutation in the αB-crystallin chaperone gene cause a desmin-related myopathy »

in hereditary myeloperoxidase deficiency associated with the R569W missense mutation". Journal of Leukocyte Biology. 63 (2): 264–9. doi:10.1002/jlb.63

relatively healthy life. It was also reported a homozygous STAT2 missense mutation (R148W/Q) which results to a STAT2 gain of function underlying fatal

result in the absence of p22phox expression (AR-CGD220). The only missense mutation leading to a normal expression of a nonfunctional p22phox protein

Crawford F, Fidani L, et al. (February 1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery–Dreifuss muscular dystrophy". European Journal of

Baroni MG (September 2016). "The perilipin 2 (PLIN2) gene Ser251Pro missense mutation is associated with reduced insulin secretion and increased insulin

Retrieved 2008-03-04. Abitbol M, Legrand R, Tiret L (April 2015). "A missense mutation in the agouti signaling protein gene (ASIP) is associated with the

hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene". Human Molecular Genetics. 3 (12): 2255–2256

Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery–Dreifuss muscular dystrophy". European Journal of

PMID 8780909. Metallinos DL, Bowling AT, Rine J (Jun 1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White

BD, Lappalainen J, et al. (November 2003). "Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype". Molecular Psychiatry

PW, Fung WY, Chu PH, Jiang B, Chan HH, Yap MK (May 2013). "A novel missense mutation in the NYX gene associated with high myopia". Ophthalmic & Physiological

2002). "Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene". The Journal of Clinical Endocrinology and Metabolism

PMID 17429082. Sakagashira S, Sanke T, Hanabusa T, et al. (September 1996). "Missense mutation of amylin gene (S20G) in Japanese NIDDM patients". Diabetes. 45 (9):

Amoroso A, Miertus S, Kohlhase J (Mar 2006). "A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated

2010). "Pseudometabolic presentation of dystrophinopathy due to a missense mutation". Muscle & Nerve. 42 (6): 975–979. doi:10.1002/mus.21823. PMC 5506871

rat leptin receptor isoform complementary DNAs--identification of a missense mutation in Zucker fatty (fa/fa) rats". Biochemical and Biophysical Research

encoded transcription factor SOX9 and campomelic dysplasia (CD). This missense mutation causes defective chondrogenesis, or the process of cartilage formation

three families across the world including the original KE family. A missense mutation causing an arginine-to-histidine substitution (R553H) in the DNA-binding

JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (Dec 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

Flecking (F) loci determine white markings. DNA studies have isolated a missense mutation in the 20S proteasome β2 subunit at the H locus. The H locus is a

type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene". American Journal of Human Genetics. 82 (4): 809–821

SNPs within C15orf32, including rs1455773 in exon 1 which causes a missense mutation from alanine to threonine at position 17, were also associated with

Becker A, et al. (August 2002). "Metabolic consequences of a novel missense mutation of the mtDNA CO I gene". Human Molecular Genetics. 11 (16): 1797–1805

Dedos SG, Hawker K, Fleming M, Lewis MA, Steel KP (June 2011). "A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice". Mammalian

October 2021. Metallinos, DL; Bowling AT; Rine J (June 1998). "A missense mutation in the endothelin-B receptor gene is associated with Lethal White

A missense mutation results in abnormal hemoglobin S. This causes RBCs to distort into sickled shapes that can block small vessels and cause tissue damage

Reinhard; Strom, Tim M.; Auer-Grumbach, Michaela (July 2014). "A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1"

complications. Genetic testing of said woman revealed a homozygous missense mutation on the SLC35A1 gene, when genetic testing was performed on her parents

Luo, Shu-Jin (2016-08-25). "Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats". Scientific

Seidman JG, Seidman CE (August 1996). "A human MSX1 homeodomain missense mutation causes selective tooth agenesis". Nature Genetics. 13 (4): 417–21

cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase". PLOS Genet. 5 (2): e1000784. doi:10

Marklund, L.; M. Johansson Moller; K. Sandberg; L. Andersson (1996). "A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is

2006 Challis BG, Pritchard LE, Creemers JW, et al. (August 2002). "A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin

Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS (July 1999). "A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural

Giuffra L, Haynes A, Irving N, James L (Feb 1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

Capillary malformations consist of endothelial cells that have a missense mutation in this gene at p.R183L and p.R183G. GNAQ gene encodes an alpha subunit

Hernandez CC, Shen W, Watkins JC, et al. (March 2017). "A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy". Journal of Medical

levels. A recent report, showed that, in the Sardinian population, the missense mutation Arg282Ser in the APOA5 gene correlates with a decrease in TG levels

Drouin E, Rasquin-Weber A, Hudson TJ, Richter A (December 2002). "A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis"

by their relatives in the case of finding a rare disease or a rare missense mutation. Public discussion around the introduction of advanced forensic techniques

consanguineous, first-cousin parents. Luigi et al. (2014) found a homozygous missense mutation (c.994G>A, also called p.E332K) in the ST3GAL5 gene of two American

of 2019. Partial list: Goate, A.; et al. (1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

2010). "Pseudometabolic presentation of dystrophinopathy due to a missense mutation". Muscle & Nerve. 42 (6): 975–979. doi:10.1002/mus.21823. ISSN 1097-4598

Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (June 2004). "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and

recessive trait that is inherited. It is caused by a heterozygous missense mutation in the LMNA gene located on chromosome 1 (1q22). The person inherits

Avent ND, Daniels G (1999). "The Fy(x) phenotype is associated with a missense mutation in the Fy(b) allele predicting Arg89Cys in the Duffy glycoprotein"

Nagafuji, Hiroshi; Noda, Masaharu; Imoto, Keiji (2001-05-22). "A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile

BD, Lappalainen J, et al. (November 2003). "Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype". Molecular Psychiatry

Shore RC, Smith CE, Abi Farraj L, Kirkham J, et al. (April 2014). "A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta". Human

cerebellar atrophy, scoliosis and hypotonia. Similarly, a homozygous missense mutation (c.430G>A, p.Ala144Thr) within the EMC1 gene has been correlated with

2016). "Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome"

Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y (December 2008). "A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant

the condition. [citation needed] Girschick et al. (2015) found a missense mutation and a 1 base pair duplication in the ACP5 gene of a 9-year-old girl

Thirumalai S, Kalsi G, et al. (Jun 2010). "A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with

Al Balwi M, Alrasheed S, et al. (March 2010). "Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results

tb00966.x. ISSN 0001-6314. PMID 2353568. Conte, Talita C.; et al. "A Missense Mutation in DCST2 Causes the Strongman Syndrome". The Canadian Institutes of

M, Hoogeboom AJ, Harvey K, Walikonis R, Harvey RJ (2015). "Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the

Yonatan; Birk, Ohad S. (2019). "Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase". The Journal of Clinical Investigation

downregulation (30%) and deletion (2%) 32% CTNNB1 clear-cell DICER1 missense mutation (somatic) nonepithelial 29% DYNLRB1 (km23) mutation 42% EGFR

Martin; Owen, Mike; Hardy, John (21 February 1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease"

are cataract and retinitis pigmentosa (RP). These are caused by a missense mutation in the alpha chain that leads to permanent blindness. A challenge