Paralogue Annotation for RYR1 residue 4290

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4290
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4290

No paralogue variants have been mapped to residue 4290 for RYR1.



RYR1DEDEGAGAAEAGAEGAEEGAAGLEGTAATA>A<AGATARVVAAAGRALRGLSYRSLRRRVRRL4320
RYR2ANKEESEK-----ERPEEQGPRMAFFSILT>V<RSALFALRYNILTLMRMLSLKSLKKQMKKV4271
RYR3EEEEEDEDSSYVLEIAGEEEEDGSLEPASA>F<AMACASVKRNVTDFLKRATLKNLRKQYRNV4172
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4290Vc.12869C>T UnknownSIFT:
Polyphen: benign