Paralogue Annotation for RYR1 residue 2088

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2088
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2088

No paralogue variants have been mapped to residue 2088 for RYR1.



RYR1TLGSRLMSLLEKVRLVKKKEEKPEEERSAE>E<SKPRSLQELVSHMVVRWAQEDFVQSPELVR2118
RYR2TIRGRLLSLVEKVTYLKKKQA--EKPVESD>S<KKSSTLQQLISETMVRWAQESVIEDPELVR2082
RYR3SWTGKLCALVYKIKGPPKPEK--EQPTEEE>E<RCPTTLKELISQTMICWAQEDQIQDSELVR1980
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2088Kc.6262G>A Putative BenignSIFT:
Polyphen: