Paralogue Annotation for RYR1 residue 2378

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2378
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2378

No paralogue variants have been mapped to residue 2378 for RYR1.



RYR1ENANVVVRLLIRKPECFGPALRGEGGSGLL>A<AIEEAIRISEDPARDGPGIRRDRRREHFGE2408
RYR2ENANVVVRLLIRRPECFGPALRGEGGNGLL>A<AMEEAIKIAEDPSRDGPSPNS-GSSKTLDT2374
RYR3ENASVVVKLLIRRPECFGPALRGEGGNGLL>A<AMQGAIKISENPALDLPSQGY-KREVSTGD2271
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A2378Tc.7132G>A Putative BenignSIFT:
Polyphen: