TYR N382K - 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.

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Curation:
Currentness:

TYR N382K

(TYR Asn382Lys)


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: 0.995 (probably damaging)
    Web search results (2 hits -- see all)
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Tyr (OCA1) tyrosine. amino acid ... N382K. 1467insT. 1501insC. OCA1B. hypomorphic. Normal. OCA1A. null. ACTIVITY ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • GM11292
    TYROSINASE; TYR. Biopsy Source. Peripheral vein. Cell Type. B-Lymphocyte ... change at codon 373 of the TYR gene [Thr373Lys (T373K)]; the other allele has an Asn to ...
    ccr.coriell.org/Sections/Search/...?Ref=GM11292&PgId=166

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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