TYR P21S - GET-Evidence

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

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Curation:
Currentness:

TYR P21S

(TYR Pro21Ser)


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: 0.992 (probably damaging)
    Web search results (80 hits -- see all)
  • Albinism: Gene Mutations in Patients with Oculocutaneous ...
    Tyr (OCA1) tyrosine. amino acid. transporter. MELANIN. Melanosome organelle. H19Q. P21S. D42G ... MELANIN. OCA1. OCA2. OCA3. OCA4. Tyr. p. Typ1. SLC45A2. P transporter (OCA2) ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • Tyrosinase Mutations
    P21S. c.61C>T. p.Pro21Ser. EX1. A. Caucasian .0023. Tripathi, et al., 1992a ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
    albinismdb.med.umn.edu/oca1mut.html
  • Rho target protein Rho-kinase - Patent 5906819
    The object of the present invention is to provide a target protein for the activated Rho ... "Post-Translation Processing Of rac p21s Is Important Both For Their Interaction ...
    www.freepatentsonline.com/5906819.html
  • Growth site localization of Rho1 small GTP-binding protein ...
    Growth site localization of Rho1 small GTP-binding protein and its involvement ... amino acid substitutions of Asp 72 to Asn and Cys 164 to Tyr of Rho1p. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2120056
  • Escherichia coli
    ... results in small alterations in the stability of E.Tyr.ATP, E.{Tyr-ATP}++ and E.Tyr.AMP.PPi complexes. ... was active on Ki- and Ha-ras p21s but inactive on rap1A p21, rhoA p21, ...
    www.bionewsonline.com/1/1/e_coli_bacter_e.htm
  • eBay - Wheel Weight Pliers - Car / Motorcycle Tyre / Tyres ...
    Items similar to: Wheel Weight Pliers - Car / Motorcycle Tyre / Tyr... 19d 13h 24m. P21S Tyre Shine Spray for Car & Motorcycle Tyres 400ml. £11.99 +£2.49. 20d 11h ...
    shop.ebay.co.uk/sis.html?_kw=Wheel+Weight+Pliers+...++Tyres
  • Induction of p130
    Poly(Glu, Tyr) was precip- itated from the supernatant with trichloroacetic acid, and the ... (Glu, Tyr) was normalized to the relative amounts of FAK determined by ...
    mcb.asm.org/cgi/reprint/16/6/2606.pdf
  • RhoGDI1 : Full Text : UCSD-Nature Molecule Pages
    The phosphorylation of RhoGDI on Tyr 156 results in a fraction of RhoGDI being " ... Post-translational processing of rac p21s is important both for their ...
    signaling-gateway.org/molecule/query?...&type=abstract
  • Blood -- Activation of Rac-1, Rac-2, and Cdc42 by hemopoietic ...
    ... the phosphorylation of Thr-180 and Tyr-182 and both residues are phosphorylated ... for smg p21s (ras p21-like small GTP-binding proteins) and characterization of ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../3183
  • The E6 Oncoproteins of High-Risk Papillomaviruses Bind to a ...
    ... Met; N, Asn; P, Pro; Q, Gln; R, Arg; S, Ser; T, Thr; V, Val; W, Trp; and Y, Tyr. ... of c-Ha-ras p21 by smg p21 having the same putative effector domain as ras p21s. J. Biol. ...
    mcb.asm.org/cgi/content/full/19/1/733

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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