Paralogue Annotation for RYR1 residue 3713

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3713
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3713

No paralogue variants have been mapped to residue 3713 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3713E	c.11137A>G	Putative Benign			SIFT: Polyphen: