Paralogue Annotation for RYR2 residue 2179

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2179
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2179

No paralogue variants have been mapped to residue 2179 for RYR2.



RYR2IMNNKVFYQHPNLMRALGMHETVMEVMVNV>L<GGGESKEITFPKMVANCCRFLCYFCRISRQ2209
RYR1IMNNKVFYQHPNLMRALGMHETVMEVMVNV>L<GGGESKEIRFPKMVTSCCRFLCYFCRISRQ2245
RYR3IMNNKVFYQHPNLMRVLGMHETVMEVMVNV>L<GT-EKSQIAFPKMVASCCRFLCYFCRISRQ2106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2179Fc.6535C>T UnknownSIFT:
Polyphen: probably damaging