TYR V275F - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TYR V275F

(TYR Val275Phe)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr11:88924373: 0.0% (2/10758) in EVS
  • Frequency shown in summary reports: 0.0% (2/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.025 (benign)
    Web search results (14 hits -- see all)
  • Retina International's Scientific Newsletter - Tyrosinase ...
    OCA1A. Cys 55 Tyr. TGT-TAT. 0165. 1. Disrupts disulfide bond or elminates ... Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous ...
    www.retina-international.com/sci-news/tyrmut.htm
  • Mutation analysis of the tyrosinase gene in oculocutaneous ...
    Mutation analysis of the tyrosinase gene in oculocutaneous albinism. ... discovered only one or even no mutation in the coding sequence of the TYR gene. ...
    www.ncbi.nlm.nih.gov/pubmed/11295837
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Tyr (OCA1) tyrosine. amino acid. transporter. MELANIN ... V275F. L288S. C289R. E294K. R299H. L312V. P313R. E328Q. F340L. G346E. A355P ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • OCA1 (TYR)
    TYR/NM_000372: 5 exons, 118,207bp, Chr11: 88,598,773 - 88,716,979. The figure below shows ... V275F and IVS2-7T are the most frequent OCA1B mutant alleles. ...
    210.75.224.41/HPSD/OCA1.htm
  • Tyrosinase Mutations
    Wang et al., 2009. V275F. c.823G>T. p.Val275Phe. EX2. B. Caucasian .0007 ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • Antropo, 7, Aquaron
    Le type tyr-neg est dénommé AOC1 (OMIM: 203100) et résulte de mutations du gène de la tyrosinase. ... Les mutations V275F et R403S ont déjà été décrites respectivement par ...
    www.didac.ehu.es/antropo/7/7-6/Aquaron.htm
  • Publications du CERTO
    VAN REGEMORTER N., MUNIER F., SCHORDERET D., DUFIER J.L., MARSAC C. ... Three new PAX6 mutations including one causing an unusual ophthalmic phenotype ...
    necker.fr/irnem/documents/.../publiunites/certo.pdf
  • PubMed: 11295837
    PMID: 11295837 Authors: Camand O, Marchant D, Boutboul S, Pequignot M, ... discovered only one or even no mutation in the coding sequence of the TYR gene. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+11295837
  • IRNEM - Recherche individu
    Expression of 8-oxoguanine DNA glycosylase (Ogg1) in mouse retina ... discovered only one or even no mutation in the coding sequence of the TYR gene. ...
    necker.fr/irnem/units/search.php?iduser=253&pass=1&affpub=1

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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