Paralogue Annotation for RYR2 residue 1297

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1297
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1297

No paralogue variants have been mapped to residue 1297 for RYR2.

RYR2	HIEVTRIDGTIDSSPCLKVTQKSFGSQNSN>T<DIMFYRLSMPIECAEVFSKTV-AGGLPGAG	1326
RYR1	HYEVSRVDGTVDTPPCLRLTHRTWGSQNSL>V<EMLFLRLSLPVQFHQHFRCTAGATPLAPPG	1313
RYR3	HIEVMRIDGTMDSPPCLKVTHKTFGTQNSN>A<DMIYCRLSMPVECHSSFSH-----------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1297N	c.3890C>A	Putative Benign			SIFT: Polyphen: