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.

RYR2	KAQRWHQGNEHYGRSWQAGDVVGCMVDMNE>H<TMMFTLNGEILLDDSGSELAFKDFDVGDGF	1201
RYR1	RGQRWHLGSEPFGRPWQPGDVVGCMIDLTE>N<TIIFTLNGEVLMSDSGSETAFREIEIGDGF	1187
RYR3	RGQRWHQGSGYFGRTWQPGDVVGCMINLDD>A<SMIFTLNGELLITNKGSELAFADYEIENGF	1187
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1171R	c.3512A>G	Putative Benign			SIFT: Polyphen: