Paralogue Annotation for RYR1 residue 1014

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1014
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1014

No paralogue variants have been mapped to residue 1014 for RYR1.



RYR1VDRLAENGHNVWARDRVGQGWSYSAVQDIP>A<RRNPRLVPYRLLDEATKRSNRDSLCQAVRT1044
RYR2VDKLAENAHNVWARDRIRQGWTYGIQQDVK>N<RRNPRLVPYTLLDDRTKKSNKDSLREAVRT1056
RYR3VDKLAENAHNVWAKDRIKQGWTYGIQQDLK>N<KRNPRLVPYALLDERTKKSNRDSLREAVRT1043
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1014Vc.3041C>T Putative BenignSIFT: tolerated
Polyphen: benign