Paralogue Annotation for RYR2 residue 3338

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3338
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3338

No paralogue variants have been mapped to residue 3338 for RYR2.

RYR2	NKVKPQLLKTHFLPLMEKLKKKAATVVSEE>D<HLKAEARGDMSEAELLILDEFTTLARDLYA	3368
RYR1	SRARPELLQSHFIPTIGRLRKRAGKVVSEE>E<QLRLEAKAEAQEGELLVRDEFSVLCRDLYA	3407
RYR3	SKARPDLLRSHFIPTLEKLKKKAVKTVQEE>E<QLKADGKGDTQEAELLILDEFAVLCRDLYA	3264
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3338N	c.10012G>A	Putative Benign		rs373103377	SIFT: deleterious Polyphen: benign
p.D3338E	c.10014C>G	Putative Benign			SIFT: Polyphen: