Paralogue Annotation for RYR1 residue 2430

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2430
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2430

No paralogue variants have been mapped to residue 2430 for RYR1.



RYR1DRRREHFGEEPPEENRVHLGHAIMSFYAAL>I<DLLGRCAPEMHLIQAGKGEALRIRAILRSL2460
RYR2-GSSKTLDTEEEEDDTIHMGNAIMTFYSAL>I<DLLGRCAPEMHLIHAGKGEAIRIRSILRSL2426
RYR3-KREVSTGDDEEEEEIVHMGNAIMSFYSAL>I<DLLGRCAPEMHLIQTGKGEAIRIRSILRSL2323
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I2430Mc.7290C>G Putative BenignSIFT:
Polyphen: