Paralogue Annotation for RYR1 residue 4268

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4268
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4268

No paralogue variants have been mapped to residue 4268 for RYR1.



RYR1EDTIFEMQIAAQISEPEGEPETDEDEGAGA>A<EAGAEGAEEGAAGLEGTAATAAAGATARVV4298
RYR2EDTIFEMQLAAQISESDLNERSANKEESEK>-<----ERPEEQGPRMAFFSILTVRSALFALR4249
RYR3EDTIFEMQLASQISESDSADRPEEEEEDED>S<SYVLEIAGEEEEDGSLEPASAFAMACASVK4150
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala4268Thrc.12802G>A UnknownSIFT:
Polyphen: