Paralogue Annotation for ANK2 residue 178

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 178
Reference Amino Acid: A - Alanine
Protein Domain: Ankyrin domain region

Paralogue Variants mapped to ANK2 residue 178

No paralogue variants have been mapped to residue 178 for ANK2.

ANK2	YLLENGANQSTATEDGFTPLAVALQQGHNQ>A<VAILLENDTKGKVRLPALHIAARKDDTKSA	208
ANK1	FLLENGANQNVATEDGFTPLAVALQQGHEN>V<VAHLINYGTKGKVRLPALHIAARNDDTRTA	189
ANK3	FLLDNGASQSLATEDGFTPLAVALQQGHDQ>V<VSLLLENDTKGKVRLPALHIAARKDDTKAA	218
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A178V	c.533C>T	Unknown			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510