TYR D42G - GET-Evidence

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

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Curation:
Currentness:

TYR D42G

(TYR Asp42Gly)


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: 0.998 (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) ...
    www.mostgene.org/2009_conference/Brilliant_albinism.pdf
  • 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. ...
    albinismdb.med.umn.edu/oca1mut.html
  • 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. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt
  • 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 ...
    novacripta.cbm.uam.es/bioweb/.../molgenetmetab92_2007.pdf
  • 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 ...
    novacripta.cbm.uam.es/.../articles/pagomez/jbiolchem278b.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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