Paralogue Annotation for ANK2 residue 19

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 19
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 19

No paralogue variants have been mapped to residue 19 for ANK2.

ANK2	MMNEDAAQKSDSGEKFNG--------->S<SQ-RRKRPKKSDSNASFLRAARAGNLDKVV	48
ANK1	MPYSVGF-------------------->-<--------READAATSFLRAARSGNLDKAL	29
ANK3	MAHAASQLKKNRDLEINAEEEPEKKRK>H<RKRSRDRKKKSDANASYLRAARAGHLEKAL	58
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See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S19N	c.56G>A	Putative Benign		rs369260005	SIFT: tolerated Polyphen: possibly damaging
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.S19G	c.55A>G	Putative Benign			SIFT: Polyphen: