TYRP1 S166X - GET-Evidence

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

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Curation:
Currentness:

TYRP1 S166X

(TYRP1 Ser166Stop)


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

  • G @ chr9:12695626: 0.1% (7/10758) in EVS
  • Frequency shown in summary reports: 0.1% (7/10758)

Publications
 

Genomes
 

Other external references
 

    Web search results (26 hits -- see all)
  • Rufous Oculocutaneous Albinism in Southern African Blacks Is ...
    African Blacks is caused by mutations in the TYRP1. gene, therefore should be referred to as "OCA3," since ... gotes for the same TYRP1 mutations (S166X/368delA) but, in addi ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • TYRP1 - tyrosinase-related protein 1 - Genetics Home Reference
    The TYRP1 gene is also known by other names, listed below. ... A small number of mutations in the TYRP1 gene have been found to cause oculocutaneous ...
    ghr.nlm.nih.gov/gene=tyrp1
  • Rufous oculocutaneous albinism in southern African Blacks is ...
    Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. ... for mutations (S166X/368delA) at the TYRP1 locus and were ...
    www.ncbi.nlm.nih.gov/pubmed/9345097
  • OMIM: 115501
    TYRP1, TYRP2, and the tyrosinase gene share a common C-terminal membrane spanning exon. ... and S166X in TYRP1 were also found to be heterozygous for the common ...
    www.genome.jp/dbget-bin/www_bget?omim+115501
  • Current Biology - Transgenic Mice: Fade to grey
    Rufous Oculocutaneous Albinism in Southern African Blacks Is Caused by Mutations in the TYRP1 Gene ... for mutations (S166X/368delA) at the TYRP1 locus and were ...
    www.cell.com/current-biology/abstract/S0960-9822(00)00233-5
  • Biophysical Journal - Radiation-damaged tyrosinase molecules ...
    ... Albinism in Southern African Blacks Is Caused by Mutations in the TYRP1 Gene ... for mutations (S166X/368delA) at the TYRP1 locus and were heterozygous for a ...
    www.cell.com/biophysj/abstract/S0006-3495(89)82787-0
  • OMIM: 203290
    Analysis of mRNA revealed that transcription of TYRP1 was completely absent. ... for 368delA and S166X in TYRP1, but were also found to be heterozygous for the ...
    www.genome.jp/dbget-bin/www_bget?omim+203290
  • OCA3 (TYRP1)
    TYRP1 is a melanocyte-specific gene product involved in eumelanin synthesis. ... TYRP1 may play a significant role in mediating ethnic differences in ...
    210.75.224.41/HPSD/OCA3.htm
  • Mendelian Inheritance in Man Document Reader
    Analysis of the TYRP1 gene in 100 Caucasians of varying hair color revealed no ... RUFOUS OCULOCUTANEOUS ALBINISM TYRP1, SER166TER Rufous oculocutaneous ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+115501
  • Oculocutaneous albinism types 1 and 3 are ER
    ing Tyrp1 not only accelerated the degradation of mutant. Tyrp1, but ... to unfolded Tyrp1 when its disulīŦde bridges have been. chemically disrupted by ...
    www.fasebj.org/cgi/reprint/15/12/2149.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

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