Paralogue Annotation for ANK2 residue 1025

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1025
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1025

No paralogue variants have been mapped to residue 1025 for ANK2.

ANK2	PRKCTAPTRVTCRLVKRHRLATMPPMVEGE>G<LASRLIEVGPSGAQFLGPVIVEIPHFAALR	1055
ANK1	PRTCAAPTRITCRLVKPQKLSTPPPLAEEE>G<LASRIIALGPTGAQFLSPVIVEIPHFASHG	1000
ANK3	PRKCTAPTRITCRLVKRHKLANPPPMVEGE>G<LASRLVEMGPAGAQFLGPVIVEIPHFGSMR	1071
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1025A	c.3074G>C	Putative Benign			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
p.G1025V	c.3074G>T	Putative Benign			SIFT: Polyphen: