Paralogue Annotation for RYR2 residue 1171

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1171
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1171

No paralogue variants have been mapped to residue 1171 for RYR2.



RYR2KAQRWHQGNEHYGRSWQAGDVVGCMVDMNE>H<TMMFTLNGEILLDDSGSELAFKDFDVGDGF1201
RYR1RGQRWHLGSEPFGRPWQPGDVVGCMIDLTE>N<TIIFTLNGEVLMSDSGSETAFREIEIGDGF1187
RYR3RGQRWHQGSGYFGRTWQPGDVVGCMINLDD>A<SMIFTLNGELLITNKGSELAFADYEIENGF1187
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H1171Rc.3512A>G Putative BenignSIFT:
Polyphen: