Paralogue Annotation for RYR1 residue 1130

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1130
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1130

No paralogue variants have been mapped to residue 1130 for RYR1.



RYR1RVGWARPELRPDVELGADELAYVFNGHRGQ>R<WHLGSEPFGRPWQPGDVVGCMIDLTENTII1160
RYR2RVGWSRPGCQPDQELGSDERAFAFDGFKAQ>R<WHQGNEHYGRSWQAGDVVGCMVDMNEHTMM1174
RYR3RVGWARPGCRPDVELGADDQAFVFEGNRGQ>R<WHQGSGYFGRTWQPGDVVGCMINLDDASMI1160
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1130Hc.3389G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.R1130Cc.3388C>T Putative BenignSIFT:
Polyphen: