Paralogue Annotation for RYR2 residue 2051

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2051
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2051

No paralogue variants have been mapped to residue 2051 for RYR2.

RYR2	LTIRGRLLSLVEKVTYLKKKQA--EKPVES>D<SKKSSTLQQLISETMVRWAQESVIEDPELV	2081
RYR1	TTLGSRLMSLLEKVRLVKKKEEKPEEERSA>E<ESKPRSLQELVSHMVVRWAQEDFVQSPELV	2117
RYR3	TSWTGKLCALVYKIKGPPKPEK--EQPTEE>E<ERCPTTLKELISQTMICWAQEDQIQDSELV	1979
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2051E	c.6153C>G	Putative Benign			SIFT: Polyphen: