TYR R217W - GET-Evidence

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

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Curation:
Currentness:

TYR R217W

(TYR Arg217Trp)


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

  • T @ chr11:88911770: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.005 (benign)
    Web search results (13 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
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Tyr (OCA1) tyrosine. amino acid. transporter. MELANIN ... R217W. R217Q. L216M. V275F. L288S. C289R. E294K. R299H. L312V. P313R. E328Q ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    R217W. c.649C>T. p.Arg217Trp. EX1. A. Caucasian .0025. Tripathi, et al. ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • Deletion Analysis of the Carboxyl-Terminal Region of the PomB ...
    ... to a multiple sequence alignment (Fig. (Fig.1),1), Tyr-127 is not conserved in MotB homologs, and there are ... E. coli, amino acid replacements R217W, R258C, and R258H at the ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC543542
  • Deletion Analysis of the Carboxyl-Terminal Region of the PomB ...
    ... RmpM from Neisseria meningitidis, Tyr-127, Arg-135, and Arg-197 may be involved in ... of E. coli, amino acid replacements R217W, R258C, and R258H at the corresponding residues ...
    jb.asm.org/cgi/content/full/187/2/778
  • S. cerevisiae
    The domain order of mammalian capping enzyme can be inverted and baculovirus ... To determine if the physical domain order is functionally important in vivo, we ...
    www.bionewsonline.com/n/2/saccharomyces_cerevisiae_f.htm
  • Deletion Analysis of the Carboxyl-Terminal Region of the PomB ...
    tein RmpM from Neisseria meningitidis, Tyr-127, Arg-135, and ... MotB of E. coli, amino acid replacements R217W, R258C, and. R258H at the corresponding residues result in loss ...
    bunshi4.bio.nagoya-u.ac.jp/bunshi4/4-ref/JBac187-778.pdf
  • Novel and recurrent mutations in the tyrosinase gene and the ...
    R77Q, R77W, P81L, G97R, R217Q, R217W, W236S, W272C, C289R, E294K, E294G, A355P, N371Y, ... AV (1997a) Novel mutations of the tyrosinase (TYR) gene in ...
    www.albinismus.info/literatur/AlbiPuibmitWeber.pdf
  • Type III 98%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • GM11296
    TYROSINASE; TYR. Biopsy Source. Peripheral vein. Cell Type. B-Lymphocyte ... at codon 81 of the TYR gene [Pro81Leu (P81L)]; the other allele has a ...
    ccr.coriell.org/Sections/Search/...?Ref=GM11296&PgId=166

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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