TYR R299H - GET-Evidence

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

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Curation:
Currentness:

TYR R299H

(TYR Arg299His)


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: 1.0 (probably damaging)
    Web search results (15 hits -- see all)
  • Albino (c, Tyr)
    Tyr (NM_011661), 3,308bp, view ORF and the alignment to genomic. ... A missense substitution at codon R299H in exon 2 of the Tyr gene causes the albino Wistar rat (Blaszczyk, et ...
    liweilab.genetics.ac.cn/HPSD/c.htm
  • 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 Tyrosinase missense mutation causes albinism in the Wistar rat.
    In humans mutations in the TYR gene are associated with type 1 ... Here we report a missense substitution at codon R299H in exon 2 of the Tyr gene in the albino Wistar rat. ...
    www.ncbi.nlm.nih.gov/pubmed/15760344
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Tyr (OCA1) tyrosine. amino acid ... R299H. L312V. P313R. E328Q. F340L. G346E. A355P. A355E. S361R. H367Y. D383N. M1T ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    R299H. c.896G>A. p.Arg299His. EX2. A. Caucasian, Arab Christian, Korean. ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • A Tyrosinase missense mutation causes albinism in the Wistar rat
    In humans mutations in the TYR gene. are associated with type 1 oculocutaneous albinism ... tion at codon R299H in exon 2 of the Tyr gene in. the albino Wistar ...
    ruhr-uni-bochum.de/neurobiol/pdf_hoffmann/...
  • Blaszczyk - Pigment Cell Res. 2005 - Allgemeine Zoologie und ...
    In humans mutations in the TYR gene are associated with type 1 ... Here we report a missense substitution at codon R299H in exon 2 of the Tyr gene in the albino Wistar rat. ...
    ruhr-uni-bochum.de/neurobiol/abstract/blaszczyk_pcr2005.htm
  • FINDbase
    TYR. Oculocutaneous albinism. p.Q359L. TYR. Oculocutaneous albinism. p.R299H. TYR ... TYR. Oculocutaneous albinism. p.W272R. TYR. Oculocutaneous albinism. p. ...
    findbase.org/display-file.php?...&consortium=
  • FINDbase
    c.-3904-2 A>, c.1707+3insT, c.1708-1 G>, c.1782delT, c.2101delAT, c.2299insC, c. ... p.G342E, p.H256Y, p.Q359L, p.R299H, p.R402X, p.S360G, p.S50X, p.W272R, ...
    findbase.org/display-file.php?...&submenu=genes&consortium=
  • OCA1患者TYR基因突变及其致病机理的生物信息学初步研究-论文
    OCA1患者TYR基因突变及其致病机理的生物信息学初步研究 ... 其中2种为错义突变(R299H和W400L),2种为无义突变(R116X和G295X),2种为插入突变(232insGGG和929insC)。查阅国际白化病中心的白化病数据库得知,在6种突变中,G295X在此前未见报道,是一种新的病理突变,另外5种突变都是 ...
    www.serverlw.com/news14/news.asp?path=9533

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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