Paralogue Annotation for RYR1 residue 2244

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2244
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2244

No paralogue variants have been mapped to residue 2244 for RYR1.

RYR1	VLGGGESKEIRFPKMVTSCCRFLCYFCRIS>R<QNQRSMFDHLSYLLENSGIG--L-GMQGST	2271
RYR2	VLGGGESKEITFPKMVANCCRFLCYFCRIS>R<QNQKAMFDHLSYLLENSSVGLASPAMRGST	2238
RYR3	VLGT-EKSQIAFPKMVASCCRFLCYFCRIS>R<QNQKAMFEHLSYLLENSSVGLASPSMRGST	2135
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2244W	c.6730C>T	Putative Benign			SIFT: Polyphen:
p.R2244Q	c.6731G>A	Putative Benign			SIFT: Polyphen: