Paralogue Annotation for RYR1 residue 2347

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2347
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2347

No paralogue variants have been mapped to residue 2347 for RYR1.



RYR1GYPDIGWNPCGGERYLDFLRFAVFVNGESV>E<ENANVVVRLLIRKPECFGPALRGEGGSGLL2377
RYR2GYPDIGWNPVEGERYLDFLRFAVFCNGESV>E<ENANVVVRLLIRRPECFGPALRGEGGNGLL2344
RYR3GYPDVGWNPIEGERYLSFLRFAVFVNSESV>E<ENASVVVKLLIRRPECFGPALRGEGGNGLL2241
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2347Kc.7039G>A Putative BenignSIFT:
Polyphen:
p.E2347Ac.7040A>C Putative BenignSIFT:
Polyphen: