Paralogue Annotation for RYR2 residue 3099

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3099
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3099

No paralogue variants have been mapped to residue 3099 for RYR2.



RYR2EKTMENLKQGQFTHTRNQPKGVTQIINYTT>V<ALLPMLSSLFEHIGQHQFGEDLILEDVQVS3129
RYR1EKMVENLRLGKVSQARTQVKGVGQNLTYTT>V<ALLPVLTTLFQHIAQHQFGDDVILDDVQVS3164
RYR3EKTSENLKLGKFTHSRTQIKGVSQNINYTT>V<ALLPILTSIFEHVTQHQFGMDLLLGDVQIS3025
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Val3099Leuc.9295G>C UnknownSIFT:
Polyphen: