TYR D42G - GET-Evidence

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

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(TYR Asp42Gly)

You are viewing an old version of this page that was saved on January 5, 2010 at 10:42pm by OMIM Importing Robot.

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Short summary


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


Insufficiently evaluated not reviewed

(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: 0.998 (probably damaging)
    Web search results (5 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
    D42G. c.125A>G. p.Asp42Gly. EX1. A. Caucasian. Northern European .0019 ... type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR gene. ...
  • Type III 95%
    ... CAMK (0.750) CAMKL (0.567) CAMK2 (0.986) NEPPK 8595410 LIMD1 Q9UGP4 G415R 413 ... reduces BRIP1 binding 10486320 11301010 TYR P14679 E294G 292 VAR_021706 CMGC (0. ...
  • Molecular genetics of HMG-CoA lyase de´Čüciency
    c.125G>A. E2. D42G. 1. 2. 1 German [12] c.126G>T. E2. D42E. 1. 2. 1 Austrian ... the large phenolic side chain of mutated Tyr, thus. disturbing the active center of the ...
  • Structural ( )
    and Tyr. 201 , the proposed substrate cavity is occluded by the. longer side chain of the ... amino acid residues R41Q, D42H, and D42G, responsible for 3-hydroxy-3-methylglutaric ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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