Paralogue Annotation for RYR1 residue 3129

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3129
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3129

No paralogue variants have been mapped to residue 3129 for RYR1.



RYR1ASEDIEKMVENLRLGKVSQARTQVKGVGQN>L<TYTTVALLPVLTTLFQHIAQHQFGDDVILD3159
RYR2AAEDLEKTMENLKQGQFTHTRNQPKGVTQI>I<NYTTVALLPMLSSLFEHIGQHQFGEDLILE3124
RYR3AAEDLEKTSENLKLGKFTHSRTQIKGVSQN>I<NYTTVALLPILTSIFEHVTQHQFGMDLLLG3020
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L3129Fc.9385C>T Putative BenignSIFT:
Polyphen: benign
p.L3129Vc.9385C>G Putative BenignSIFT:
Polyphen: