Paralogue Annotation for RYR2 residue 3679

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3679
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3679

No paralogue variants have been mapped to residue 3679 for RYR2.

RYR2	AEPPEEDEGTKRVDPLHQLILLFSRTALTE>K<CKLEEDFLYMAYADIMAKSCHDEED-D--D	3706
RYR1	QEEEEEEVEEKKPDPLHQLVLHFSRTALTE>K<SKLDEDYLYMAYADIMAKSCHLEEGGENGE	3743
RYR3	VEEEEEEETEKQPDPLHQIILYFSRNALTE>R<SKLEDDPLYTSYSSMMAKSCQSGED-E--E	3595
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3679R	c.11036A>G	Putative Benign			SIFT: Polyphen: