TYR A206T - GET-Evidence

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

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Curation:
Currentness:

TYR A206T

(TYR Ala206Thr)


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: 0.021 (benign)
    Web search results (7 hits -- see all)
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Tyr (OCA1) tyrosine. amino acid. transporter. MELANIN ... A206T. R217G. R217W. R217Q. L216M. V275F. L288S. C289R. E294K. R299H. L312V ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    A206T. c.619G>A. p.Ala206Thr. EX1. A. Caucasian .0021. rs28940880. King et ... 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 ... 8 novel mutations (D76E, A206T, Q255X, C276Y, R299C, M332I, V427F, ...
    210.75.224.41/HPSD/OCA1.htm
  • Visualizing secretion and synaptic transmission with pH ...
    the two maxima are protonated and deprotonated states of Tyr 66, ... be part of the proton-relay network of Tyr 66. or to alter the excitation spectrum when ...
    info.med.yale.edu/cellbio/.../1998_Miesenbock_Nature.pdf
  • GLUT10: a glucose transporter in the type 2 diabetes linked ...
    GLUT 10 is an insulin-responsive glucose transporter gene located in the type 2 diabetes linked region of chromosome 20Q12-13.3. ...
    www.patentgenius.com/patent/6849728.html
  • factor vii deficiency
    Scientific Experts, Genomes and Genes, Publications, Webpages, Research Topics about factor vii deficiency ... were identified in two patients with the mutant allele A206T. ...
    labome.org/.../coagulation/factor-vii-deficiency-7866.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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