Paralogue Annotation for RYR2 residue 3647

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3647
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3647

No paralogue variants have been mapped to residue 3647 for RYR2.

RYR2	VNLFLQGYEKSWIETEEHYFEDKLIEDLAK>P<G-AEPPEEDEGTKRVDPLHQLILLFSRTAL	3676
RYR1	CNMFLESYKAAWILTEDHSFEDRMIDDLSK>A<GEQEEEEEEVEEKKPDPLHQLVLHFSRTAL	3710
RYR3	INLFLHGYQRFWIETEEYSFEEKLVQDLAK>S<PKVEEEEEEETEKQPDPLHQIILYFSRNAL	3565
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3647R	c.10940C>G	Putative Benign			SIFT: Polyphen: