RPE65 A434V - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

RPE65 A434V

(RPE65 Ala434Val)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr1:68897002: 2.5% (274/10758) in EVS
  • Frequency shown in summary reports: 2.5% (274/10758)

Publications
 

Genomes
 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:68669590

 

Other external references
 

    dbSNP
  • rs34627040
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RPE65 gene
    Leber Congenital Amaurosis
    Retinitis Pigmentosa, Autosomal Recessive
    RPE65-Related Leber Congenital Amaurosis
    RPE65-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPE65
    PolyPhen-2
  • Score: 0.019 (benign)
    Web search results (11 hits -- see all)
  • Mutation of key residues of RPE65 abolishes its enzymatic ...
    Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the ... in RPE65 but not generally, including K294T (6, 20), A434V (6, 20) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1224626
  • doi:10.1086/302335
    Segregation of RPE65 mutations in seven families in group LCA2. ... for RPE65 gene mutations by SSCP analysis and direct. sequencing in the eight families ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Gendia | Microarray Testing
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/t18_note4.html
  • doi:10.1086/302332
    A434V. 6: Exon 10. DelA. 1114DelA. Exon 7. C754T. R234X. 7: Exon 10. C1141A ... Functional Outcome of RetGC1 and RPE65. Gene Mutations in Leber Congenital Amaurosis ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • IOVS -- Yzer et al. 47 (9): 3736 Figure 4
    Pedigree, CRB1 and RPE65 mutations, and mfERGs of family 4. Patient 2.1 carries the p. F488S and p. L753P ... in CRB1 with the additional maternal p. A434V variation in RPE65. ...
    www.iovs.org/cgi/content-nw/full/47/9/3736/F4
  • CRB1 Heterozygotes with Regional Retinal Dysfunction ...
    Pedigree, CRB1 and RPE65 mutations, and mfERGs of family 4. Patient 2.1 carries the p. F488S and p. L753P ... in CRB1 with the additional maternal p. A434V variation in RPE65. ...
    www.iovs.org/cgi/content/full/47/9/3736/F4

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in