TYR W236X - GET-Evidence

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

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Curation:
Currentness:

TYR W236X

(TYR Trp236Stop)


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 (8 hits -- see all)
  • Tyrosinase Mutations
    W236X. c.707G>A. p.Trp236X. EX1. A. African .0035. Oetting et al., 1993b ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Tyr (OCA1) tyrosine. amino acid ... W236X. 731delGT. R278X. 863delT. 929insC. G346X. IVS2-1G. A. IVS2-7T. A. Q376X ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • A frequent tyrosinase gene mutation associated with type I-A ...
    ... individual with negroid features was homozygous for a nonsense mutation (W236X) ... of a TaqI polymorphism at the CCAATT box of the human tyrosinase (TYR) gene. ...
    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
  • Fabry Disease
    It is caused by a deficiency of an enzyme located on the X-chromosome. ... of an edited protein (Phe 396 Tyr) that might have a relevant physiological function. ...
    www.thedoctorsdoctor.com/diseases/fabry_disease.htm
  • Dr. William S. Oetting and Albino Dobermans
    In humans, the tyrosinase gene (TYR) maps to the long arm of chromosome 11 at ... individual with negroid features was homozygous for a nonsense mutation (W236X) ...
    whitedobes.doberinfo.com/Oetting.html
  • Mendelian Inheritance in Man Document Reader
    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.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+606933
  • Albinism, Oculocutaneous :: enzymology
    BioInfoBank Library :: Albinism, Oculocutaneous :: enzymology :: Soluble tyrosinase is an endoplasmic reticulum (ER)-associated degradation substrate retained in the ...
    lib.bioinfo.pl/meid:260304

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

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