Paralogue Annotation for RYR2 residue 2173

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2173
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2173

No paralogue variants have been mapped to residue 2173 for RYR2.

RYR2	IRGLGDIMNNKVFYQHPNLMRALGMHETVM>E<VMVNVLGGGESKEITFPKMVANCCRFLCYF	2203
RYR1	IQSIGNIMNNKVFYQHPNLMRALGMHETVM>E<VMVNVLGGGESKEIRFPKMVTSCCRFLCYF	2239
RYR3	INGLGDIMNNKVFYQHPNLMRVLGMHETVM>E<VMVNVLGT-EKSQIAFPKMVASCCRFLCYF	2100
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2173D	c.6519G>T	Putative Benign			SIFT: Polyphen: