Paralogue Annotation for ANK2 residue 1430

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1430
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1430

No paralogue variants have been mapped to residue 1430 for ANK2.

ANK2	EPKSTRGLVHQAICNLNITLPIYTKESESD>Q<EQE--------EEIDMTSE--KNDETESTE	1450
ANK1	KAMKYEDTQ-HILCHLNITMPPCAKGSGAE>D<RRR--------TPTPLALR--YSILSE---	1391
ANK3	EPKTTKGLPQTAVCNLNITLPAHKKETESD>Q<DDEIEKTDRRQSFASLALRKRYSYLTE--P	1475
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1430K	c.4288C>A	Putative Benign			SIFT: tolerated Polyphen: possibly damaging