Paralogue Annotation for ANK2 residue 2136

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2136
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2136

No paralogue variants have been mapped to residue 2136 for ANK2.

ANK2	VIKQELEDNDKYQQFRLSEETEKAQLHLDQ>V<LTSPFNTTFPLDYMKDEFLPA---------	2157
ANK1	------------------------------>-<------------------------------
ANK3	PPSSELQGSDKRSREKIATAPKKEILSKIY>K<DVSENGVGKVSKDEHFDKVTVLHYSGNVSS	2550
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2136I	c.6406G>A	Putative Benign		rs149292242	SIFT: 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