Paralogue Annotation for RYR2 residue 1279

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1279
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1279

No paralogue variants have been mapped to residue 1279 for RYR2.

RYR2	MWLSKRLPQFLQVPSNHEHIEVTRIDGTID>S<SPCLKVTQKSFGSQNSNTDIMFYRLSMPIE	1309
RYR1	TWFSKGLPQFEPVPLEHPHYEVSRVDGTVD>T<PPCLRLTHRTWGSQNSLVEMLFLRLSLPVQ	1295
RYR3	MWFSKRLPTFVNVPKDHPHIEVMRIDGTMD>S<PPCLKVTHKTFGTQNSNADMIYCRLSMPVE	1295
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1279T	c.3836G>C	Putative Benign			SIFT: Polyphen: