Paralogue Annotation for RYR1 residue 4746

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4746
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4746

No paralogue variants have been mapped to residue 4746 for RYR1.



RYR1YWDKFVKRKVLDKHGDIYGRERIAELLGMD>L<ATLEITAHNER-KPNPPPGLLTWLMSIDVK4775
RYR2YWDKFVKRKVMDKYGEFYGRDRISELLGMD>K<AALDFSDAREKKKPKKDSSLSAVLNSIDVK4704
RYR3YWDKFVKRKVINKYGDLYGAERIAELLGLD>K<NALDFSPVEET-KA-EAASLVSWLSSIDMK4607
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4746Mc.14236C>A Putative BenignSIFT:
Polyphen: