Paralogue Annotation for RYR2 residue 4250

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4250
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4250

No paralogue variants have been mapped to residue 4250 for RYR2.



RYR2----ERPEEQGPRMAFFSILTVRSALFALR>Y<NILTLMRMLSLKSLKKQMKKVKKMTVKDMV4280
RYR1EAGAEGAEEGAAGLEGTAATAAAGATARVV>A<AAGRALRGLSYRSLRRRVRRLRRLTAREAA4329
RYR3SYVLEIAGEEEEDGSLEPASAFAMACASVK>R<NVTDFLKRATLKNLRKQYRNVKKMTAKELV4181
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y4250Cc.12749A>G UnknownSIFT:
Polyphen: benign