Paralogue Annotation for RYR1 residue 2371

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2371
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2371

No paralogue variants have been mapped to residue 2371 for RYR1.



RYR1VNGESVEENANVVVRLLIRKPECFGPALRG>E<GGSGLLAAIEEAIRISEDPARDGPGIRRDR2401
RYR2CNGESVEENANVVVRLLIRRPECFGPALRG>E<GGNGLLAAMEEAIKIAEDPSRDGPSPNS-G2367
RYR3VNSESVEENASVVVKLLIRRPECFGPALRG>E<GGNGLLAAMQGAIKISENPALDLPSQGY-K2264
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2371Gc.7112A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 30(4):E575-90. 19191333