TYR M1V - GET-Evidence

Curation:
Currentness:

TYR M1V

(TYR Met1Val)


Short summary

Reported to cause oculocutaneous albinism in a recessive manner. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004011/), and comes from Fukai et al 1995 (PMID: 7704033) who found this variant carried heterozygously by one of 12 patients studied.

Variant evidence
Computational 3

Mutation of 1st amino acid can be highly disruptive; gene generally considered a cause of this disease

Functional -
Case/Control

No statistical significance in Fukai et al’s observations

Familial -
 
Clinical importance
Severity 3
Treatability 1
Penetrance 5
 

Impact

Moderate clinical importance, Uncertain pathogenic

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

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr11:88911122: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet. 1995 Jan;9(1):92-5. PubMed PMID: 7704033.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.992 (probably damaging)
    Web search results (424 hits -- see all)
  • Retina International's Scientific Newsletter - Tyrosinase ...
    Compound: M1V. R402Q. CM941347 (1) OCA1A. Asn 371 Tyr. AAT-TAT. 1111. 3. Compound: 731delGT ... Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous ...
    www.retina-international.com/sci-news/tyrmut.htm
  • A Comprehensive Genetic Study of Autosomal Recessive Ocular ...
    ... TYR3 or OCA2,4 two of the 18 genes involved in the more severe oculocutaneous ... We have shown that patients with TYR-related AROA may be compound heterozygous ...
    www.iovs.org/cgi/content/full/49/3/868
  • Tyrosinase Mutations
    M1V* c.1A>G. p.Met1Val. EX1. A. European (Italian) .0037. rs28940881 ... 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. transporter. MELANIN ... M1V. H390D. V393F. R402G. R403S. H404P. P406L. G419R. P431L. G446S. D448N ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • 02
    M1V. Met. Val. German. 161. 6. 425. 1. 4delG. 2. GGG. del1a. Stop at 205. SP. 4delG ... Tyr. British. 68. 70. 375. 3. 266G>A. 89. TGC. TAC. G->A. LB #2. C68Y. C89Y. Cys. Tyr. North Irish. 90. 71 ...
    www.umd.necker.fr/LDLR/UMD/update/02
  • Dutch BRCA1 Mutations
    23. Stop 39. 185delAG. 35. 5. 310. G to A. 64. Cys to Tyr. C64Y. 3. 5. 331 +3 A to G ... Tyr to Stop. Y978X. 1. 11. 3109. ins AA. 997. Stop 999. 3109insAA. 12. 11. 3131 ...
    www.humgen.nl/lab-devilee/Lab/b1nlmuts.htm
  • RCSB PDB : Structure Summary
    M1V, L12V, E70K, P144S, Q197L. Source. Hide. Polymer: 1. Scientific Name: ... METHYL]-1H-IMIDAZOL-5-OLATE (parent: HIS, TYR, GLY)(type: lPeptideLinking) ...
    www.rcsb.org/pdb/explore.do?structureId=2ddc
  • RCSB PDB : Structure Summary for 2DDD - Unique behavior of a ...
    2DDD: Unique behavior of a histidine responsible for an engineered green-to-red photoconversion process
    www.rcsb.org/pdb/explore.do?structureId=2ddd
  • Nomenclature for the description of sequence variants ...
    Since references to WWW-sites are not yet acknowledged as citations, please ... L, Phe, Pro with P and Thr, Tyr with T) publications often contain mistakes when ...
    www.hgvs.org/mutnomen/disc.html
  • The V388M Mutation Results in a Kinetic Variant Form of ...
    (Phe) to tyrosine (Tyr). De´Čüciency of PAH enzymatic. activity is the most common cause of ... and in vivo correlations for I65T and M1V mutations at the ...
    www.bh4.org/pdf/leandro.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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