Paralogue Annotation for RYR1 residue 2087

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2087
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2087

No paralogue variants have been mapped to residue 2087 for RYR1.

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

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2087D	c.6261G>C	Putative Benign		rs376623643	SIFT: tolerated Polyphen: benign
p.E2087K	c.6259G>A	Putative Benign			SIFT: tolerated Polyphen: benign