Paralogue Annotation for RYR1 residue 2219

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2219
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2219

No paralogue variants have been mapped to residue 2219 for RYR1.

RYR1	KVFYQHPNLMRALGMHETVMEVMVNVLGGG>E<SKEIRFPKMVTSCCRFLCYFCRISRQNQRS	2249
RYR2	KVFYQHPNLMRALGMHETVMEVMVNVLGGG>E<SKEITFPKMVANCCRFLCYFCRISRQNQKA	2213
RYR3	KVFYQHPNLMRVLGMHETVMEVMVNVLGT->E<KSQIAFPKMVASCCRFLCYFCRISRQNQKA	2110
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2219K	c.6655G>A	Putative Benign		rs185754956	SIFT: Polyphen: benign