TYR N371T - GET-Evidence

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

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Curation:
Currentness:

TYR N371T

(TYR Asn371Thr)


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 (5 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
    N371T. c.1112A>C. p.Asn371Thr. EX3. A. Caucasian .0028. Oetting et al., 1991a. King et al., 2003 ... 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 ... N371T. T373K. R422Q. W80R. S339G. T325A. G253R. S395N. 1315delTTT. CC. Q359X. EGF. CuA. CuB. 53delG ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Novel and recurrent mutations in the tyrosinase gene and the ...
    position as N371T, a mutation previously reported by Oet- ting et al. (1993) in a patient ... AV (1997a) Novel mutations of the tyrosinase (TYR) gene in ...
    www.albinismus.info/literatur/AlbiPuibmitWeber.pdf
  • Coexpression of Wild-Type Tyrosinase Enhances Maturation of ...
    Mutations in TYR are the cause of classic type I oculocutaneous. albinism (OCA1, OMIM ... identiĀ®ed in TYR fall under two main functional groups: those that ...
    people.biochem.umass.edu/.../Halaban et al. jid 2002.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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