Paralogue Annotation for ANK2 residue 3663

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3663
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3663

No paralogue variants have been mapped to residue 3663 for ANK2.

ANK2	-----------------------AQHKQKE>E<QAVSKESETCDHPPIVSEEDISVGYSTFQD	3693
ANK1	SSPLRADQYWNEVAVLDAIPLAATEHDTML>E<MSDMQVWSAGLTPSLVTAEDSSLECSKAED	1592
ANK3	------------------------------>-<--------IFDYGNISGTRSFADENNVFHD	4195
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3663K	c.10987G>A	Inherited Arrhythmia	LQTS	rs199473347	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 2(11):1218-23. 16253912
p.E3663Q	c.10987G>C	Putative Benign			SIFT: Polyphen: