TYR G446S - GET-Evidence

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

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Curation:
Currentness:

TYR G446S

(TYR Gly446Ser)


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: 0.899 (probably damaging)
    Web search results (7 hits -- see all)
  • Retina International's Scientific Newsletter - Tyrosinase ...
    G446S. CM971543 (23) OCA1A. Glu 78 ter. GAG-TAG. 0232. 1. Compound: G446S. CM971543 (23) OCA1 ... Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous ...
    www.retina-international.com/sci-news/tyrmut.htm
  • Tyrosinase Mutations
    Opitz et al., 2004. G446S. c.1336G>A. p.Gly446Ser. EX4. A. Caucasian .0031 ... 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 ... G446S. D448N. Missense Mutations. S50X. 286insA. 344delGA. R116X. W178X. 572delG. 649delC. W236X ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • OMIM: 138130
    Glutamate, the main substrate of GLUD, is present in brain in concentrations ... predicted to cause a his454-to-tyr (H454Y) substitution in the mature protein. ...
    www.genome.jp/htbin/www_bget?omim+138130
  • 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
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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