Paralogue Annotation for RYR1 residue 2083

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2083
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2083

No paralogue variants have been mapped to residue 2083 for RYR1.



RYR1-EEETTLGSRLMSLLEKVRLVKKKEEKPEE>E<RSAEESKPRSLQELVSHMVVRWAQEDFVQS2113
RYR2GNSDLTIRGRLLSLVEKVTYLKKKQA--EK>P<VESDSKKSSTLQQLISETMVRWAQESVIED2077
RYR3-EEDTSWTGKLCALVYKIKGPPKPEK--EQ>P<TEEEERCPTTLKELISQTMICWAQEDQIQD1975
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E2083Vc.6248A>T Putative BenignSIFT:
Polyphen: