Paralogue Annotation for RYR2 residue 4257

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4257
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4257

No paralogue variants have been mapped to residue 4257 for RYR2.



RYR2EEQGPRMAFFSILTVRSALFALRYNILTLM>R<MLSLKSLKKQMKKVKKMTVKDMVTAFFSSY4287
RYR1EEGAAGLEGTAATAAAGATARVVAAAGRAL>R<GLSYRSLRRRVRRLRRLTAREAATAVAALL4336
RYR3GEEEEDGSLEPASAFAMACASVKRNVTDFL>K<RATLKNLRKQYRNVKKMTAKELVKVLFSFF4188
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R4257Qc.12770G>A Putative BenignSIFT: tolerated
Polyphen: benign