TYR L216M - GET-Evidence

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

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Curation:
Currentness:

TYR L216M

(TYR Leu216Met)


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: 0.074 (benign)
    Web search results (8 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
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Tyr (OCA1) tyrosine. amino acid. transporter. MELANIN ... L216M. V275F. L288S. C289R. E294K. R299H. L312V. P313R. E328Q. F340L. G346E ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    L216M. c.646T>A. p.Leu216Met. EX1. A. Canary Islands .0036. Oetting et al. ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • A frequent tyrosinase gene mutation associated with type I-A ...
    RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. ... 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
  • Dr. William S. Oetting and Albino Dobermans
    In humans, the tyrosinase gene (TYR) maps to the long arm of chromosome 11 at ... novel missense mutation (L216M), one was homozygous for a missense mutation ...
    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 = –3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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