Paralogue Annotation for RYR1 residue 1289

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1289
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1289

No paralogue variants have been mapped to residue 1289 for RYR1.



RYR1VDGTVDTPPCLRLTHRTWGSQNSLVEMLFL>R<LSLPVQFHQHFRCTAGATPLAPPGLQPPAE1319
RYR2IDGTIDSSPCLKVTQKSFGSQNSNTDIMFY>R<LSMPIECAEVFSKTV-AGGLPGAGLFGPK-1331
RYR3IDGTMDSPPCLKVTHKTFGTQNSNADMIYC>R<LSMPVECHSSFSH-----------------1302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1289Wc.3865C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging