Paralogue Annotation for RYR2 residue 3783

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3783
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3783

No paralogue variants have been mapped to residue 3783 for RYR2.

RYR2	PMVAATLKLGIAILNGGNSTVQQKMLDYLK>E<KKDVGFFQSLAGLMQSCSVLDLNAFERQNK	3813
RYR1	AMVSSTLKLGISILNGGNAEVQQKMLDYLK>D<KKEVGFFQSIQALMQTCSVLDLNAFERQNK	3851
RYR3	PMVVETLKLGIAILNGGNAGVQQKMLDYLK>E<KKDAGFFQSLSGLMQSCSVLDLNAFERQNK	3703
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3783V	c.11348A>T	Putative Benign			SIFT: Polyphen: