Paralogue Annotation for RYR1 residue 2224

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2224
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2224

No paralogue variants have been mapped to residue 2224 for RYR1.

RYR1	HPNLMRALGMHETVMEVMVNVLGGGESKEI>R<FPKMVTSCCRFLCYFCRISRQNQRSMFDHL	2254
RYR2	HPNLMRALGMHETVMEVMVNVLGGGESKEI>T<FPKMVANCCRFLCYFCRISRQNQKAMFDHL	2218
RYR3	HPNLMRVLGMHETVMEVMVNVLGT-EKSQI>A<FPKMVASCCRFLCYFCRISRQNQKAMFEHL	2115
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2224C	c.6670C>T	Putative Benign		rs199870223	SIFT: Polyphen: probably damaging
p.R2224H	c.6671G>A	Putative Benign			SIFT: tolerated Polyphen: benign