Paralogue Annotation for RYR1 residue 1513

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1513
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1513

No paralogue variants have been mapped to residue 1513 for RYR1.



RYR1HSSLKCSNCYMVWGGDFVSPGQQGRISHTD>L<VIGCLVDLATGLMTFTANGKESNTFFQVEP1543
RYR2HESIKRSNCYMVCAGESMSPGQ-G-RNNNG>L<EIGCVVDAASGLLTFIANGKELSTYYQVEP1535
RYR3HESVKRSNCYMVWGGDIVASSQRSNRSNVD>L<EIGCLVDLAMGMLSFSANGKELGTCYQVEP1439
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1513Pc.4538T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240