Paralogue Annotation for RYR2 residue 4718

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4718
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4718

No paralogue variants have been mapped to residue 4718 for RYR2.



RYR2PKKDSSLSAVLNSIDVKYQMWKLGVVFTDN>S<FLYLAWYMTMSVLGHYNNFFFAAHLLDIAM4748
RYR1PNPPPGLLTWLMSIDVKYQIWKFGVIFTDN>S<FLYLGWYMVMSLLGHYNNFFFAAHLLDIAM4819
RYR3A-EAASLVSWLSSIDMKYHIWKLGVVFTDN>S<FLYLAWYTTMSVLGHYNNFFFAAHLLDIAM4651
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S4718Yc.14153C>A Putative BenignSIFT:
Polyphen: