Paralogue Annotation for RYR1 residue 1944

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1944
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1944

No paralogue variants have been mapped to residue 1944 for RYR1.



RYR1AEGEKEEGLEEGLLQMKLPESVKLQMCHLL>E<YFCDQELQHRVESLAAFAERYVDKLQANQR1974
RYR2-EAKGGKRPKEGLLQMKLPEPVKLQMCLLL>Q<YLCDCQVRHRIEAIVAFSDDFVAKLQDNQR1941
RYR3-EKAGKEAPVKGLLQTRLPESVKLQMCELL>S<YLCDCELQHRVEAIVAFGDIYVSKLQANQK1842
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1944Qc.5830G>C Putative BenignSIFT:
Polyphen: