TYR P21S - GET-Evidence

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

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(TYR Pro21Ser)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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) ...
  • 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. ...
  • 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 ...
  • 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. ...
  • 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, ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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