TYR C55Y - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

TYR C55Y

(TYR Cys55Tyr)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (19 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
  • A Comprehensive Genetic Study of Autosomal Recessive Ocular ...
    ... TYR3 or OCA2,4 two of the 18 genes involved in the more severe oculocutaneous ... We have shown that patients with TYR-related AROA may be compound heterozygous ...
    www.iovs.org/cgi/content/full/49/3/868
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    C55Y. R77W. R77Q. R77C. P81L. C89R. G97R. P152S. F176I. A206T. R217G. R217W ... Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Trp1 (OCA3) Tyr (OCA1) tyrosine. H /ATPase. anions. P ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    C55Y. c.164G>A. p.Cys55Tyr. EX1. A. Caucasian .0020. rs28940879. King et al., 1991. Hutton and ... in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • Identification of a novel lipase gene mutated in lpd mice ...
    ... a rare DNA variant, namely 164G>A (C55Y), which was absent from 600 normal chromosomes. ... of Ser-154, Asp-178 and Tyr-253, which replaces the histidine residue with tyrosine. ...
    hmg.oxfordjournals.org/cgi/content/full/12/10/1131
  • About our department
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    castlelab.princeton.edu/Presentations/...
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    Y.c7*@w)* ƒzú*í-'éFT*Iñ*4G**îµtÿR@*@*qÄ8*·V*ÿÅæ*ΘG² ... ô¼¥`·öτ*XⁿΩ àcFWR*Ç55Ykô:"&σ**""KYf}j±Öƒ93u"d·F$vΣεQ£`τ*¬å:nkgîsÜ`Uαy½k ...
    webs.wichita.edu/physics/Files/Seminar.Ho.9.23.2009.pps
  • Identification of a novel lipase gene mutated in lpd mice with ...
    ... were heterozygous for a rare DNAvariant, namely 164G>A(C55Y), which was. absent from 600 normal chromosomes. ... and Tyr-253, which replaces the histidine residue with tyrosine. ...
    robarts.ca/hegele/publicationsarchive/...
  • Scuola Secondaria di 1 g. SALVEMINI-VIRGILIO Brindisi ...
    Griglia di valutazione dei titoli degli aspiranti all'incarico di Esperti nel ... Hope Listen KAn YYY, guy porn pics C55y PMs Free Naked Woman Pics W3C ekPW, ...
    salveminivirgilio.eu/modules.php?name=News&file=article&...
  • 雷風警報
    ... C4AE C4AF C4AG C4AH C4AI C4AJ C4AK C4AL C4AM C4AN C4AO C4AP C4AQ C4AR ... C55O C55P C55Q C55R C55S C55T C55U C55V C55W C55X C55Y C55Z C消せ C消せ C消せ C消せ C消せ ...
    tailtowakannai.iinaa.net/levntailto018.htm

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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