Paralogue Annotation for RYR2 residue 1280

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1280
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1280

No paralogue variants have been mapped to residue 1280 for RYR2.

RYR2	WLSKRLPQFLQVPSNHEHIEVTRIDGTIDS>S<PCLKVTQKSFGSQNSNTDIMFYRLSMPIEC	1310
RYR1	WFSKGLPQFEPVPLEHPHYEVSRVDGTVDT>P<PCLRLTHRTWGSQNSLVEMLFLRLSLPVQF	1296
RYR3	WFSKRLPTFVNVPKDHPHIEVMRIDGTMDS>P<PCLKVTHKTFGTQNSNADMIYCRLSMPVEC	1296
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1280C	c.3839C>G	Putative Benign			SIFT: Polyphen:
p.S1280F	c.3839C>T	Putative Benign			SIFT: Polyphen: