TYR R422Q - GET-Evidence

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

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Curation:
Currentness:

TYR R422Q

(TYR Arg422Gln)


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: 0.993 (probably damaging)
    Web search results (15 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
  • A Comprehensive Genetic Study of Autosomal Recessive Ocular ...
    ... TYR3 or OCA2,4 two of the 18 genes involved in the more severe oculocutaneous ... We have shown that patients with TYR-related AROA may be compound heterozygous ...
    www.iovs.org/cgi/content/full/49/3/868
  • Tyrosinase Mutations
    King et al., 2003. R422Q. c.1265G>A. p.Arg422Gln. EX4. TS. Caucasian .0012. Giebel et al., 1991b ... 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 ... R422Q. W80R. S339G. T325A. G253R. S395N. 1315delTTT. CC. Q359X. EGF. CuA. CuB. 53delG. 25delC. R52I ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Temperature sensitive oculocutaneous albinism associated with ...
    Our patient did not have the R422Q mutation previously reported in patients with ... Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1772864
  • Initial sequence and comparative analysis of the cat genome
    TYR. D1. 70,511,772. Albino. del975C leads to premature stop (Imes et al. ... R422Q (Giebel et al. 1991) Burmese. G227W (Lyons et al. 2005; Schmidt ...
    home.ncifcrf.gov/ccr/lgd/.../Yuhki/yuhki_GenRes_2007_17.pdf
  • 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
  • S. cerevisiae
    Northern blot analysis of normal tissues detected a particularly high ... Ser-Arg-Tyr showing the presence of active acylpeptidehydrolase facilitating the ...
    www.bionewsonline.com/6/2/saccharomyces_cerevisiae_x.htm
  • Contribution to comprehension of image formation in confocal ...
    11275201:Contribution to comprehension of image formation in confocal microscopy ... To clarify the phenomenon of dark endothelial and bright epithelial cell ...
    www.cnic.ac.cn/health/254/63.htm
  • Novel and recurrent mutations in the tyrosinase gene and the ...
    R403S, P406L, G419R, R422Q, F439V, G446S, and. D448N), one splice site ... (1997a) Novel mutations of the tyrosinase (TYR) gene in. type I oculocutaneous albinism ...
    www.albinismus.info/literatur/AlbiPuibmitWeber.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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