Paralogue Annotation for RYR1 residue 4223

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4223
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4223

No paralogue variants have been mapped to residue 4223 for RYR1.



RYR1YFEISETNRAQWEMPQVKESKRQFIFDVVN>E<GGEAEKMELFVSFCEDTIFEMQIAAQISEP4253
RYR2YFEISESSRTQWEKPQVKESKRQFIFDVVN>E<GGEKEKMELFVNFCEDTIFEMQLAAQISES4209
RYR3YFEISESSRTQWEKPQVKESKRQFIFDVVN>E<GGEQEKMELFVNFCEDTIFEMQLASQISES4105
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4223Qc.12667G>C Putative BenignSIFT:
Polyphen: