Paralogue Annotation for RYR2 residue 3347

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3347
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3347

No paralogue variants have been mapped to residue 3347 for RYR2.

RYR2	THFLPLMEKLKKKAATVVSEEDHLKAEARG>D<MSEAELLILDEFTTLARDLYAFYPLLIRFV	3377
RYR1	SHFIPTIGRLRKRAGKVVSEEEQLRLEAKA>E<AQEGELLVRDEFSVLCRDLYALYPLLIRYV	3416
RYR3	SHFIPTLEKLKKKAVKTVQEEEQLKADGKG>D<TQEAELLILDEFAVLCRDLYAFYPMLIRYV	3273
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3347N	c.10039G>A	Putative Benign			SIFT: deleterious Polyphen: benign