Paralogue Annotation for RYR2 residue 2188

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2188
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2188

No paralogue variants have been mapped to residue 2188 for RYR2.

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

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2188P	c.6562A>C	Putative Benign			SIFT: Polyphen:
p.T2188S	c.6563C>G	Putative Benign			SIFT: Polyphen: