Paralogue Annotation for RYR2 residue 1172

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1172
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1172

No paralogue variants have been mapped to residue 1172 for RYR2.

RYR2	AQRWHQGNEHYGRSWQAGDVVGCMVDMNEH>T<MMFTLNGEILLDDSGSELAFKDFDVGDGFI	1202
RYR1	GQRWHLGSEPFGRPWQPGDVVGCMIDLTEN>T<IIFTLNGEVLMSDSGSETAFREIEIGDGFL	1188
RYR3	GQRWHQGSGYFGRTWQPGDVVGCMINLDDA>S<MIFTLNGELLITNKGSELAFADYEIENGFV	1188
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1172S	c.3514A>T	Putative Benign			SIFT: Polyphen:
p.T1172I	c.3515C>T	Putative Benign			SIFT: Polyphen: