Paralogue Annotation for RYR2 residue 2114

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2114
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2114

No paralogue variants have been mapped to residue 2114 for RYR2.

RYR2	MFVLLHRQYDGIGGLVRALPKTYTINGVSV>E<DTINLLASLGQIRSLLSVRMGKEEEKLMIR	2144
RYR1	MFSLLHRQYDGLGELLRALPRAYTISPSSV>E<DTMSLLECLGQIRSLLIVQMGPQEENLMIQ	2180
RYR3	MFNLLRRQYDSIGELLQALRKTYTISHTSV>S<DTINLLAALGQIRSLLSVRMGKEEELLMIN	2042
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2114Q	c.6340G>C	Putative Benign			SIFT: Polyphen: