Paralogue Annotation for RYR2 residue 3709

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3709
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3709

No paralogue variants have been mapped to residue 3709 for RYR2.

RYR2	LEEDFLYMAYADIMAKSCHDEED-D--DGE>E<E-VKSFEEKEMEKQKLLYQQARLHDRGAAE	3738
RYR1	LDEDYLYMAYADIMAKSCHLEEGGENGEAE>E<EVEVSFEEKQMEKQRLLYQQARLHTRGAAE	3776
RYR3	LEDDPLYTSYSSMMAKSCQSGED-E--EED>E<DKEKTFEEKEMEKQKTLYQQARLHERGAAE	3628
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3709V	c.11126A>T	Putative Benign		rs200013680	SIFT: deleterious Polyphen: benign