RPE65 P363T - 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 P363T

(RPE65 Pro363Thr)


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: 1.0 (probably damaging)
    Web search results (14 hits -- see all)
  • 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
  • Genetics and Phenotypes of RPE65 Mutations in Inherited ...
    To characterize the spectrum of RPE65 mutations present in 453 patients with retinal ... The 14 exons of RPE65 were ampliļ¬ed by polymerase chain reaction (PCR) from ...
    www.iovs.org/cgi/reprint/41/13/4293.pdf
  • Genetics and Phenotypes of RPE65 Mutations in Inherited ...
    Genetics and Phenotypes of RPE65 Mutations in Inherited Retinal Degeneration ... The 14 exons of RPE65 were amplified by polymerase chain reaction ...
    www.iovs.org/cgi/content/full/41/13/4293
  • 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
  • EC 5.2.1.7 - Retinol isomerase
    Information on EC 5.2.1.7 - Retinol isomerase ... Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=5.2.1.7
  • 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
    P363T. Exon 13. T1472A. V473N. prevalence of Usher syndrome and other retinal dystrophy ... Outcome of RetGC1 and RPE65. Gene Mutations in Leber Congenital ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Reference to EC No. 5.2.1.7, ID= 679833
    Impacts of two point mutations of RPE65 from Lebers congenital amaurosis on the stability, subcellular ... mutations Y144D and P363T identified in patients with Lebers ...
    brenda-enzymes.org/literature/lit.php4?e=5.2.1.7&r=679833
  • Impacts of two point mutations of RPE65 from Leber's ...
    RPE65, a membrane-associated protein in the retinal pigment epithelium, is the ... Here we report that single point mutations of RPE65, Y144D and P363T, identified ...
    www.medscape.com/medline/abstract/16828753

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in