Paralogue Annotation for RYR1 residue 2379

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2379
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2379

No paralogue variants have been mapped to residue 2379 for RYR1.



RYR1NANVVVRLLIRKPECFGPALRGEGGSGLLA>A<IEEAIRISEDPARDGPGIRRDRRREHFGEE2409
RYR2NANVVVRLLIRRPECFGPALRGEGGNGLLA>A<MEEAIKIAEDPSRDGPSPNS-GSSKTLDTE2375
RYR3NASVVVKLLIRRPECFGPALRGEGGNGLLA>A<MQGAIKISENPALDLPSQGY-KREVSTGDD2272
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala2379Aspc.7136C>A UnknownSIFT:
Polyphen: