Paralogue Annotation for RYR1 residue 2222

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2222
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2222

No paralogue variants have been mapped to residue 2222 for RYR1.

RYR1	YQHPNLMRALGMHETVMEVMVNVLGGGESK>E<IRFPKMVTSCCRFLCYFCRISRQNQRSMFD	2252
RYR2	YQHPNLMRALGMHETVMEVMVNVLGGGESK>E<ITFPKMVANCCRFLCYFCRISRQNQKAMFD	2216
RYR3	YQHPNLMRVLGMHETVMEVMVNVLGT-EKS>Q<IAFPKMVASCCRFLCYFCRISRQNQKAMFE	2113
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2222K	c.6664G>A	Putative Benign			SIFT: Polyphen: