Paralogue Annotation for ANK2 residue 1797

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1797
Reference Amino Acid: H - Histidine
Protein Domain: Repeat-rich region

Paralogue Variants mapped to ANK2 residue 1797

No paralogue variants have been mapped to residue 1797 for ANK2.

ANK2	KTTHRPHPAASPSLKSERHAPGSPSPKTER>H<STLSS---------------------SAKT	1806
ANK1	------------------------------>-<------------------------------
ANK3	DGEERQKRVLKPAIALQEHKLKMPPASMRT>S<TSEKELCKMADSFFGTDTILESPDDFSQHD	2119
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1797Y	c.5389C>T	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.H1797R	c.5390A>G	Putative Benign			SIFT: Polyphen: