Paralogue Annotation for RYR2 residue 2079

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2079
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2079

No paralogue variants have been mapped to residue 2079 for RYR2.

RYR2	ESDSKKSSTLQQLISETMVRWAQESVIEDP>E<LVRAMFVLLHRQYDGIGGLVRALPKTYTIN	2109
RYR1	SAEESKPRSLQELVSHMVVRWAQEDFVQSP>E<LVRAMFSLLHRQYDGLGELLRALPRAYTIS	2145
RYR3	EEEERCPTTLKELISQTMICWAQEDQIQDS>E<LVRMMFNLLRRQYDSIGELLQALRKTYTIS	2007
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2079A	c.6236A>C	Putative Benign			SIFT: deleterious Polyphen: benign
p.E2079K	c.6235G>A	Putative Benign			SIFT: Polyphen: