Paralogue Annotation for RYR2 residue 2172

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2172
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2172

No paralogue variants have been mapped to residue 2172 for RYR2.



RYR2MIRGLGDIMNNKVFYQHPNLMRALGMHETV>M<EVMVNVLGGGESKEITFPKMVANCCRFLCY2202
RYR1MIQSIGNIMNNKVFYQHPNLMRALGMHETV>M<EVMVNVLGGGESKEIRFPKMVTSCCRFLCY2238
RYR3MINGLGDIMNNKVFYQHPNLMRVLGMHETV>M<EVMVNVLGT-EKSQIAFPKMVASCCRFLCY2099
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Met2172Lysc.6515T>A UnknownSIFT:
Polyphen: