Paralogue Annotation for RYR1 residue 2218

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2218
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2218

No paralogue variants have been mapped to residue 2218 for RYR1.

RYR1	NKVFYQHPNLMRALGMHETVMEVMVNVLGG>G<ESKEIRFPKMVTSCCRFLCYFCRISRQNQR	2248
RYR2	NKVFYQHPNLMRALGMHETVMEVMVNVLGG>G<ESKEITFPKMVANCCRFLCYFCRISRQNQK	2212
RYR3	NKVFYQHPNLMRVLGMHETVMEVMVNVLGT>-<EKSQIAFPKMVASCCRFLCYFCRISRQNQK	2109
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2218S	c.6652G>A	Putative Benign			SIFT: Polyphen: