Paralogue Annotation for RYR2 residue 1295

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1295
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1295

No paralogue variants have been mapped to residue 1295 for RYR2.

RYR2	HEHIEVTRIDGTIDSSPCLKVTQKSFGSQN>S<NTDIMFYRLSMPIECAEVFSKTV-AGGLPG	1324
RYR1	HPHYEVSRVDGTVDTPPCLRLTHRTWGSQN>S<LVEMLFLRLSLPVQFHQHFRCTAGATPLAP	1311
RYR3	HPHIEVMRIDGTMDSPPCLKVTHKTFGTQN>S<NADMIYCRLSMPVECHSSFSH---------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1295G	c.3883A>G	Putative Benign		rs200574919	SIFT: tolerated Polyphen: benign