Paralogue Annotation for RYR1 residue 996

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 996
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 996

No paralogue variants have been mapped to residue 996 for RYR1.



RYR1PAPLDLSHVRLTPAQTTLVDRLAENGHNVW>A<RDRVGQGWSYSAVQDIPARRNPRLVPYRLL1026
RYR2PAPMDLSFIKLTPSQEAMVDKLAENAHNVW>A<RDRIRQGWTYGIQQDVKNRRNPRLVPYTLL1038
RYR3PAPLDLSDVKLLPPQEILVDKLAENAHNVW>A<KDRIKQGWTYGIQQDLKNKRNPRLVPYALL1025
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A996Vc.2987C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging