Paralogue Annotation for RYR1 residue 1118

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1118
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1118

No paralogue variants have been mapped to residue 1118 for RYR1.



RYR1YFEFEAVTTGEMRVGWARPELRPDVELGAD>E<LAYVFNGHRGQRWHLGSEPFGRPWQPGDVV1148
RYR2YFEFETVTAGDMRVGWSRPGCQPDQELGSD>E<RAFAFDGFKAQRWHQGNEHYGRSWQAGDVV1162
RYR3YFEFEVVTGGDMRVGWARPGCRPDVELGAD>D<QAFVFEGNRGQRWHQGSGYFGRTWQPGDVV1148
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1118Kc.3352G>A Putative BenignSIFT: deleterious
Polyphen: benign