Paralogue Annotation for ANK2 residue 2390

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2390
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2390

No paralogue variants have been mapped to residue 2390 for ANK2.

ANK2	PQGL----------ELALPSRD---SEVLS>A<VADDSL-------------AVS-------H	2400
ANK1	------------------------------>-<------------------------------
ANK3	RRMLSSNIPDGFCEQSAFPKHELSQKLSQS>S<MSKETVETQHFNSIEDEKVTYSEISKVSKH	3028
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2390T	c.7168G>A	Benign		rs3733616	SIFT: tolerated Polyphen: benign
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.A2390S	c.7168G>T	Putative Benign			SIFT: Polyphen: