Paralogue Annotation for RYR1 residue 4751

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4751
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4751

No paralogue variants have been mapped to residue 4751 for RYR1.



RYR1VKRKVLDKHGDIYGRERIAELLGMDLATLE>I<TAHNER-KPNPPPGLLTWLMSIDVKYQIWK4780
RYR2VKRKVMDKYGEFYGRDRISELLGMDKAALD>F<SDAREKKKPKKDSSLSAVLNSIDVKYQMWK4709
RYR3VKRKVINKYGDLYGAERIAELLGLDKNALD>F<SPVEET-KA-EAASLVSWLSSIDMKYHIWK4612
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I4751Sc.14252T>G Putative BenignSIFT:
Polyphen: