Paralogue Annotation for ANK2 residue 1404

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1404
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1404

No paralogue variants have been mapped to residue 1404 for ANK2.

ANK2	KENRLPLFVKVRDTTQEPCGRLSFMKEPKS>T<RGLVHQAICNLNITLPIYTKESESDQEQE-	1433
ANK1	RENRLAMPVKVRDSSREPGGSLSFLRKAMK>Y<EDTQ-HILCHLNITMPPCAKGSGAEDRRR-	1377
ANK3	KENRLPFSIKIRDTSQEPCGRLSFLKEPKT>T<KGLPQTAVCNLNITLPAHKKETESDQDDEI	1451
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1404M	c.4211C>T	Putative Benign		rs142534126	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