TYRP1 R373X - GET-Evidence

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

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Curation:
Currentness:

TYRP1 R373X

(TYRP1 Arg373Stop)


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
 

    Web search results (6 hits -- see all)
  • 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
  • OMIM: 115501
    Analysis of the TYRP1 gene in 100 Caucasians of varying hair color revealed no ... in exon 6 of the TYRP1 gene, resulting in an arg373-to-ter (R373X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+115501
  • Tyrosinase Related Protein-1 Mutations
    R373X. c.117C>T. p.Arg373Ter. EX6. OCA. Pakistani. Forshew et al., 2005 ... E. R. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. ...
    albinismdb.med.umn.edu/oca3mut.html
  • Albinismo oculocutaneo di tipo 3 (OCA3)
    L'Albinismo Oculocutaneo di tipo 3 è associato al gene TYRP1. ... nonsenso nel gene TYRP1 (una transizione 1117C-T nell'esone 6) che risulta in una sostituzione ARG373TER (R373X) ...
    www.albinismo.it/content/view/182/35
  • 文章摘要
    较早前已确定了TYRP1基因S166X和1104delA两种病理性突变,最近在巴基斯坦和德国先后发现3种新突变R373X、R356E、L36X,但它们与OCA3的关系有待进一步确定。 以前曾认为OCA3只发生在黑色人种,最近在巴基斯坦和德国发现的这两例极可能是OCA3的病例却为高加索人种,这可能会更新人们对OCA3表型与分型的认识。 ...
    genetics.hrbmu.edu.cn/qikan/Cpaper/zhaiyao.asp?bsid=4617

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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