Paralogue Annotation for RYR2 residue 2078

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2078
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2078

No paralogue variants have been mapped to residue 2078 for RYR2.



RYR2VESDSKKSSTLQQLISETMVRWAQESVIED>P<ELVRAMFVLLHRQYDGIGGLVRALPKTYTI2108
RYR1RSAEESKPRSLQELVSHMVVRWAQEDFVQS>P<ELVRAMFSLLHRQYDGLGELLRALPRAYTI2144
RYR3TEEEERCPTTLKELISQTMICWAQEDQIQD>S<ELVRMMFNLLRRQYDSIGELLQALRKTYTI2006
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2078Sc.6232C>T Putative BenignSIFT:
Polyphen: