Paralogue Annotation for RYR1 residue 4753

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4753
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4753

No paralogue variants have been mapped to residue 4753 for RYR1.



RYR1RKVLDKHGDIYGRERIAELLGMDLATLEIT>A<HNER-KPNPPPGLLTWLMSIDVKYQIWKFG4782
RYR2RKVMDKYGEFYGRDRISELLGMDKAALDFS>D<AREKKKPKKDSSLSAVLNSIDVKYQMWKLG4711
RYR3RKVINKYGDLYGAERIAELLGLDKNALDFS>P<VEET-KA-EAASLVSWLSSIDMKYHIWKLG4614
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4753Tc.14257G>A Putative BenignSIFT:
Polyphen:
p.A4753Vc.14258C>T Putative BenignSIFT:
Polyphen: