Paralogue Annotation for RYR1 residue 2963

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2963
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2963

No paralogue variants have been mapped to residue 2963 for RYR1.



RYR1NGYAVTRGLKDMELDSSSIEKRFAFGFLQQ>L<LRWMDISQEFIAHLEAVVSSGRVEKSPHEQ2993
RYR2NGYAVSRGFKDLELDTPSIEKRFAYSFLQQ>L<IRYVDEAHQYILEFDGG-SRGKGEHFPYEQ2958
RYR3NGIIVSRGMKDMELDASSMEKRFAYKFLKK>I<LKYVDSAQEFIAHLEAIVSSGKTEKSPRDQ2854
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2963Pc.8888T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy An integrated diagnosis strategy for congenital myopathies. PLoS One. 2013 8(6):e67527. doi: 10.1371/journal.pone.0067527. Pr 23826317
Other Myopathy RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. Neuromuscul Disord. 2014 24(8):707-12. doi: 10.1016/j.nmd.2014.05.003. 24951453