Paralogue Annotation for RYR2 residue 1261

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1261
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1261

No paralogue variants have been mapped to residue 1261 for RYR2.

RYR2	GLQEGYEPFAVNTNRDITMWLSKRLPQFLQ>V<PSNHEHIEVTRIDGTIDSSPCLKVTQKSFG	1291
RYR1	GLQEGFEPFAINMQRPVTTWFSKGLPQFEP>V<PLEHPHYEVSRVDGTVDTPPCLRLTHRTWG	1277
RYR3	GLQEGFEPFAVNMNRDVAMWFSKRLPTFVN>V<PKDHPHIEVMRIDGTMDSPPCLKVTHKTFG	1277
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1261F	c.3781G>T	Putative Benign			SIFT: Polyphen: