TYR D448N - GET-Evidence

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

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Curation:
Currentness:

TYR D448N

(TYR Asp448Asn)


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 @ chr11:89018098: 0.0% (1/10756) in EVS
  • Frequency shown in summary reports: 0.0% (1/10756)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.949 (probably damaging)
    Web search results (4 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
    D448N. c.1342G>A. p.Asp448Asn. EX4. B. Caucasian .0032. Tripathi, et al. ... 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 ... D448N. Missense Mutations. S50X. 286insA. 344delGA. R116X. W178X. 572delG. 649delC. W236X. 731delGT ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Novel and recurrent mutations in the tyrosinase gene and the ...
    D448N), one splice site mutation (IVS2–7T. A), and. seven frameshift mutations (338delCA, ... AV (1997a) Novel mutations of the tyrosinase (TYR) gene in ...
    www.albinismus.info/literatur/AlbiPuibmitWeber.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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