Paralogue Annotation for ANK2 residue 1424

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1424
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to ANK2 residue 1424

No paralogue variants have been mapped to residue 1424 for ANK2.



ANK2RLSFMKEPKSTRGLVHQAICNLNITLPIYT>K<ESESDQEQE--------EEIDMTSE--KND1444
ANK1SLSFLRKAMKYEDTQ-HILCHLNITMPPCA>K<GSGAEDRRR--------TPTPLALR--YSI1388
ANK3RLSFLKEPKTTKGLPQTAVCNLNITLPAHK>K<ETESDQDDEIEKTDRRQSFASLALRKRYSY1471
cons                              > <                              

See full Alignment of Paralogues


Known Variants in ANK2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1424Ec.4270A>G Putative Benignrs369038140SIFT: deleterious
Polyphen: probably damaging
ReportsUnknown 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