RPE65 L341S - GET-Evidence

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

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Curation:
Currentness:

RPE65 L341S

(RPE65 Leu341Ser)


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
 

    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: 0.999 (probably damaging)
    Web search results (7 hits -- see all)
  • Retina International s Scientific Newsletter - RPE65 Mutations
    Mutations of the RPE65 Gene. Phenotype. Mutation. Basechange. Nucleotide ... the translation start site since RPE65 does not contain an untranslated first ...
    www.retina-international.com/sci-news/rpe65mut.htm
  • human gene therapy success mutations: Prerequisite for RPE65 ...
    Mutations in RPE65, a gene essential to normal operation of the ... L341S L341S. This study. P4. 19. Female. R44Q R91W. 48. P5. 20. Female. L343X. This study. P6. 21. Male ...
    www.jgb.org/pdf/bressler/2006/Jacobson_Photoreceptors.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
  • BioPortfolio - xeroderm pigmentosa mycobacteria
    xeroderm pigmentosa mycobacteria - BioPortfolio ... RPE65, L341S, C, N/C_N, Retinitis pigmentosa ... http://www.biomedcentral.com/content/supplementary/1471-2164...
    bioportfolio.com/search/xeroderm_pigmentosa_mycobacteria....
  • Articles
    Age-dependent effects of RPE65 gene therapy for Leber's. congenital amaurosis: a phase 1 ... and visual function in 12 patients (aged 8–44 years) with RPE65-associated Leber's ...
    www.tfrr.org/modules/news/photos/000780004700116.pdf
  • Supplementary Table S1. List of all genetic variants included ...
    IVS2-2 A>G. splice. 37. 2714 G>A. R905Q. 20. 571delT. Y191fs. 12. 286 G>A. V96I. 38. IVS8+5 G>A ... L341S. 26. 2759_2760insT. Q920fs. 3 2 57_58del. E20fs. 56 1047_1048insTGG. N349_W350insW. 27 18 ...
    www.iovs.org/cgi/data/46/9/3052/DC1/1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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