Paralogue Annotation for RYR1 residue 4289

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4289
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4289

No paralogue variants have been mapped to residue 4289 for RYR1.



RYR1TDEDEGAGAAEAGAEGAEEGAAGLEGTAAT>A<AAGATARVVAAAGRALRGLSYRSLRRRVRR4319
RYR2SANKEESEK-----ERPEEQGPRMAFFSIL>T<VRSALFALRYNILTLMRMLSLKSLKKQMKK4270
RYR3PEEEEEDEDSSYVLEIAGEEEEDGSLEPAS>A<FAMACASVKRNVTDFLKRATLKNLRKQYRN4171
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4289Ec.12866C>A UnknownSIFT:
Polyphen: benign
p.A4289Vc.12866C>T UnknownSIFT:
Polyphen: benign