TYR R77Q - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TYR R77Q

(TYR Arg77Gln)


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

  • A @ chr11:88911351: 0.0% (3/10758) in EVS
  • Frequency shown in summary reports: 0.0% (3/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (34 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 ...
    R77Q. R77C. P81L. C89R. G97R. P152S. F176I. A206T. R217G. R217W. R217Q. L216M. V275F. L288S. C289R ... Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Trp1 (OCA3) Tyr (OCA1) ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    Hutton and Spritz, 2008b. R77Q. c.230G>A. p.Arg77Gln. EX1. A. Japanese, Korean, Chinese ... in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • Albinism
    TYR(R402Q)/Tyr(H402A) Golgi processing and transport to melanosomes were ... One patient in whom only an R77Q OCA1A mutation was found in one allele ...
    www.thedoctorsdoctor.com/diseases/albinism.htm
  • Proline 35 of Human Immunodeficiency Virus Type 1 (HIV-1) Vpr ...
    Effect of R77Q, R77A and R80A changes in Vpr on HIV-1 replication and CD4 T cell ... Effect of R77Q, R77A and R80A changes in Vpr on HIV-1 replication and ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1951402/?tool=pubmed
  • Detection of 53 Novel DNA Variations Within the Tyrosinase ...
    gene (TYR) resulting in OCA1. Analysing patients with recessively ... OCA genes have been identified including the tyrosinase gene (TYR, MIM# 606933; ...
    www.albinismus.info/literatur/hummutat_oca.pdf
  • The Role of Vpr in HIV-1 Pathogenesis
    cleave an inhibitory phosphate at Tyr-15 of the Cdc2 kinase. Failure to dephosphorylate Cdc2 at Tyr-15 renders Cdc2 ... Vpr mutation, R77Q, was found in 80% of virus isolates ...
    www.bentham.org/chivr/sample/chivr3-1/005AB.pdf
  • Proline 35 of HIV-1 Vpr regulates the integrity of the N-
    residues Tyr-15 to Arg-32 that is bounded N- and C-terminally by Pro-14 and Pro ... Effect of R77Q, R77A and R80A changes in Vpr on HIV-1 replication and CD4 T ...
    jvi.asm.org/cgi/reprint/JVI.02803-06v1.pdf
  • CD3G antibody | antibody review based on formal publications
    Vpr R77Q is associated with long-term nonprogressive HIV infection ... CD4(+) T cells by inhibiting ZAP-70 Tyr(319) phosphorylation: a potential role for tyrosine phosphatases. ...
    www.exactantigen.com/review/CD3G.html
  • Escherichia coli
    Structure of formamidopyrimidine-DNA glycosylase covalently complexed ... Site-directed mutagenesis revealed that His-158, Tyr-380, and Ser-558 were essential for ...
    www.bionewsonline.com/8/1/e_coli_y.htm

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in