Paralogue Annotation for RYR2 residue 1276

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1276
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1276

No paralogue variants have been mapped to residue 1276 for RYR2.

RYR2	DITMWLSKRLPQFLQVPSNHEHIEVTRIDG>T<IDSSPCLKVTQKSFGSQNSNTDIMFYRLSM	1306
RYR1	PVTTWFSKGLPQFEPVPLEHPHYEVSRVDG>T<VDTPPCLRLTHRTWGSQNSLVEMLFLRLSL	1292
RYR3	DVAMWFSKRLPTFVNVPKDHPHIEVMRIDG>T<MDSPPCLKVTHKTFGTQNSNADMIYCRLSM	1292
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1276I	c.3827C>T	Putative Benign			SIFT: Polyphen: