Paralogue Annotation for ANK2 residue 3588

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3588
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3588

No paralogue variants have been mapped to residue 3588 for ANK2.

ANK2	LDFTEEQIHQIRIENPNSLQDQSHALLKYW>L<ERDGKHATDTNLVECLTKINRMDIVHLMET	3618
ANK1	LQFSVEDINRIRVENPNSLLEQSVALLNLW>V<IREGQNANMENLYTALQSIDRGEIVNMLEG	1485
ANK3	LNFSVDEINQIRVENPNSLISQSFMLLKKW>V<TRDGKNATTDALTSVLTKINRIDIVTLLEG	4172
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3588V	c.10762C>G	Conflict		rs45570339	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