Paralogue Annotation for RYR1 residue 2288

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2288
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2288

No paralogue variants have been mapped to residue 2288 for RYR1.



RYR1SGIG--L-GMQGSTPLDVAAASVIDNNELA>L<ALQEQDLEKVVSYLAGCGLQSCPMLVAKGY2318
RYR2SSVGLASPAMRGSTPLDVAAASVMDNNELA>L<ALREPDLEKVVRYLAGCGLQSCQMLVSKGY2285
RYR3SSVGLASPSMRGSTPLDVAASSVMDNNELA>L<SLEEPDLEKVVTYLAGCGLQSCPMLLAKGY2182
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2288Sc.6863T>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145