Paralogue Annotation for RYR2 residue 4443

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4443
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4443

No paralogue variants have been mapped to residue 4443 for RYR2.

RYR2	KFQEQ--KA---KEEEKEEKEETKSEPEKA>E<GEDGEKEEKAKEDKGKQKLR--------QL	4465
RYR1	KRKLGVDGVEEELPPEPEPEPEPELEPEKA>D<AENGEKEEVPEPTPEPPKKQ---------A	4526
RYR3	KRKA---QA---AEMKAANEAEGKVESEKA>D<MEDGEKEDKDKEEEQAEYLWTEVTKKKKRR	4376
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4443D	c.13329G>T	Putative Benign		rs77959278	SIFT: tolerated Polyphen: possibly damaging