TYR R403S - 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 R403S

(TYR Arg403Ser)


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

  • T @ chr11:89017965: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.776 (possibly damaging)
    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
  • Tyrosinase Mutations
    R403S(a) c.1209G>C. p.Arg403Ser. EX4. German. Opitz et al., 2004. R403S(b) ... 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. transporter. MELANIN ... R403S. H404P. P406L. G419R. P431L. G446S. D448N. Missense Mutations. S50X ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Antropo, 7, Aquaron
    Le type tyr-neg est dénommé AOC1 (OMIM: 203100) et résulte de mutations du gène de la tyrosinase. ... Les mutations V275F et R403S ont déjà été décrites respectivement par ...
    www.didac.ehu.es/antropo/7/7-6/Aquaron.htm
  • Moroccan Human Mutation Database
    TYR. OMIM Number. 203100. Published DNA change. Proper Nomenclature ... TYR. OMIM Number. 203100. Published DNA change. Proper Nomenclature. Published AA change. R403S ...
    www.sante.gov.ma/Departements/INH/MoHuMuDa/search/O2.htm
  • 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
  • Novel and recurrent mutations in the tyrosinase gene and the ...
    R403S mutation in patient 101; this mutation is associated. with a milder form of albinism, OCA2, which should be ... AV (1997a) Novel mutations of the tyrosinase (TYR) gene in ...
    www.albinismus.info/literatur/AlbiPuibmitWeber.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in