TYR T373K - GET-Evidence

Curation:
Currentness:

TYR T373K

(TYR Thr373Lys)


Short summary

Numerous reports confirm this is a well-established cause of oculocutaneous albinism type 1 (recessive). Oetting, et al. 1991 reported this variant as compound heterozygous in one of three patients. Gershoni-Baruch, et al. 1994 found it compound heterozygous in 2 of 38 cases. Later studies further confirm variant, e.g. Hutton et al. 2008 (4 compound het carriers in 36 patients, PMID 18326704) and the same authors later found it heterozygous in 23 out of 121 patients (PMID 18463683).

Variant evidence
Computational 2

Other variants in this gene cause this disease

Functional -
Case/Control 5

Well-established by numerous reports, eg both Hutton et al papers.

See Hutton SM et al. 2008 (18326704), Hutton SM et al. 2008 (18463683).

Familial 3

Well-established cause

 
Clinical importance
Severity 3
Treatability 1
Penetrance 5
 

Impact

Moderate clinical importance, pathogenic

(The "moderate clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA. Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. Am J Hum Genet. 1991 Jul;49(1):199-206. PubMed PMID: 1905879; PubMed Central PMCID: PMC1683219.

 

Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet. 1994 Apr;54(4):586-94. PubMed PMID: 8128955; PubMed Central PMCID: PMC1918101.

 

Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. PubMed PMID: 18326704.

 

Hutton SM, Spritz RA. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008 Oct;128(10):2442-50. Epub 2008 May 8. PubMed PMID: 18463683.

 

Genomes
 

Other external references
 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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