TYR P81L - GET-Evidence

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

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Curation:
Currentness:

TYR P81L

(TYR Pro81Leu)


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 @ chr11:88911363: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (22 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 ...
    P81L. C89R. G97R. P152S. F176I. A206T. R217G. R217W. R217Q. L216M. V275F. L288S. C289R. E294K. R299H ... Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Trp1 (OCA3) Tyr (OCA1) ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    P81L. c.242C>T. p.Pro81Leu. EX1. A. Caucasian. Northern European. German. ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • OCA1 (TYR)
    TYR/NM_000372: 5 exons, 118,207bp, Chr11: 88,598,773 - 88,716,979. The figure below shows the structure of ... is by far the most frequent OCA1A mutant allele, followed by P81L. ...
    210.75.224.41/HPSD/OCA1.htm
  • A frequent tyrosinase gene mutation associated with type I-A ...
    The G47D and P81L missense mutations have been previously described in extended families in the United States. ... RFLP for BgIII at the human tyrosinase (TYR) locus. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1682128
  • OMIM: 606933
    GENE STRUCTURE Spritz et al. (1988) identified a TaqI RFLP at the TYR locus. ... 60 independent albinism-producing alleles had been described at the TYR locus. ...
    www.genome.jp/dbget-bin/www_bget?omim+606933
  • Dr. William S. Oetting and Albino Dobermans
    In humans, the tyrosinase gene (TYR) maps to the long arm of chromosome 11 at ... mutation (P81L), and one was heterozygous for the missense mutation P81L. ...
    whitedobes.doberinfo.com/Oetting.html
  • OMIM: 602690
    Haplotype analyses of the 14 P81L carrier families indicated that 5 ... transversion in the SDHD gene, resulting in an asp92-to-tyr (D92Y) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+602690
  • Detection of 53 Novel DNA Variations Within the Tyrosinase ...
    gene (TYR) resulting in OCA1. Analysing patients with recessively ... OCA genes have been identified including the tyrosinase gene (TYR, MIM# 606933; ...
    www.albinismus.info/literatur/hummutat_oca.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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