TYR C89R - GET-Evidence

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

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Curation:
Currentness:

TYR C89R

(TYR Cys89Arg)


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: 0.999 (probably damaging)
    Web search results (20 hits -- see all)
  • Carbohydrates act as sorting determinants in ER-associated ...
    ( B) TYR(C89R) mRNA was translated in RRL in the presence of Tyr(C85S) ... We therefore examined if human albino mutant TYR(C89R) is degraded by the proteasome in an ATP-dependent ...
    jcs.biologists.org/cgi/content/full/117/14/2937
  • Carbohydrates act as sorting determinants in ER- associated ...
    addition, TYR(C89R) was further stabilized in the absence of. cytosol as indicated by an ... triglucosylated TYR(C89R) was lost in buffer as in URL, just ...
    jcs.biologists.org/cgi/reprint/117/14/2937.pdf
  • Endoplasmic reticulum retention is a common defect associated ...
    TYR(R402Q)/Tyr(H402A) Golgi processing and transport to melanosomes were ... from human and mouse tyrosinase (TYR and Tyr, respectively) cDNAs predict a type ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC18529/?tool=pmcentrez
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    C89R. G97R. P152S. F176I. A206T. R217G. R217W. R217Q. L216M. V275F. L288S. C289R ... Tyr. p. Trp1. SLC45A2. Melanocyte Proteins. Trp1 (OCA3) Tyr (OCA1) tyrosine. H /ATPase. anions. P ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    C89R. c.265T>C. p.Cys89Arg. EX1. A. African-American .0011. rs28940877 ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • 02
    Tyr. North Irish. 90. 71. 442. 3. 265T>C. 89. TGC. CGC. T->C. LB #2. C68R - CATANZARO. C89R. Cys. Arg ... Tyr. Italian. 143. 126. 545. 4. 353delA. 118. GAT. del1b. Stop at 205. LB #3 ...
    www.umd.necker.fr/LDLR/UMD/update/02
  • 雷風警報
    ... C4AE C4AF C4AG C4AH C4AI C4AJ C4AK C4AL C4AM C4AN C4AO C4AP C4AQ C4AR C4AS C4AT ... C89L C89M C89N C89O C89P C89Q C89R C89S C89T C89U C89V C89W C89X C89Y ...
    tailtowakannai.iinaa.net/levntailto018.htm
  • MIME-Version: 1.0 Content-Type: multipart/related; boundary ...
    お使いのブラウザ、またはエディタは Web アーカイブ ファイルをサポートしていません。 Microsoft Internet Explorer など、Web アーカイブを ... ascii" <html xmlns:v=3D"urn:schemas-microsoft-com:vml ...
    keinet.com/kamoikes/h20/5/ensoku/ensoku1.mht
  • Endoplasmic reticulum retention is a common defect associated ...
    common albino mouse mutation Tyr(C85S), the frequent human ... mouse tyrosinase (TYR and Tyr, respectively) cDNAs predict a. type I membrane glycoprotein ...
    people.biochem.umass.edu/hebertlab/Lab Pubs/...

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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