Paralogue Annotation for RYR1 residue 4279

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4279
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4279

No paralogue variants have been mapped to residue 4279 for RYR1.



RYR1QISEPEGEPETDEDEGAGAAEAGAEGAEEG>A<AGLEGTAATAAAGATARVVAAAGRALRGLS4309
RYR2QISESDLNERSANKEESEK-----ERPEEQ>G<PRMAFFSILTVRSALFALRYNILTLMRMLS4260
RYR3QISESDSADRPEEEEEDEDSSYVLEIAGEE>E<EDGSLEPASAFAMACASVKRNVTDFLKRAT4161
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4279Tc.12835G>A Putative BenignSIFT:
Polyphen: