Paralogue Annotation for RYR2 residue 3378

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3378
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3378

No paralogue variants have been mapped to residue 3378 for RYR2.

RYR2	MSEAELLILDEFTTLARDLYAFYPLLIRFV>D<YNRAKWLKEPNPEAEELFRMVAEVFIYWSK	3408
RYR1	AQEGELLVRDEFSVLCRDLYALYPLLIRYV>D<NNRAQWLTEPNPSAEELFRMVGEIFIYWSK	3447
RYR3	TQEAELLILDEFAVLCRDLYAFYPMLIRYV>D<NNRSNWLKSPDADSDQLFRMVAEVFILWCK	3304
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3378A	c.10133A>C	Putative Benign			SIFT: Polyphen: