Paralogue Annotation for RYR2 residue 4222

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4222
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4222

No paralogue variants have been mapped to residue 4222 for RYR2.



RYR2FCEDTIFEMQLAAQISESDLNERSANKEES>E<K-----ERPEEQGPRMAFFSILTVRSALFA4247
RYR1FCEDTIFEMQIAAQISEPEGEPETDEDEGA>G<AAEAGAEGAEEGAAGLEGTAATAAAGATAR4296
RYR3FCEDTIFEMQLASQISESDSADRPEEEEED>E<DSSYVLEIAGEEEEDGSLEPASAFAMACAS4148
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4222Kc.12664G>A Putative BenignSIFT:
Polyphen: