Paralogue Annotation for ANK2 residue 1993

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1993
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 1993

No paralogue variants have been mapped to residue 1993 for ANK2.

ANK2	AFQSGQDPSKHKTGLFEHKSAKQKQPQEKG>K<VR--------------------VEKEKGPI	2003
ANK1	------------------------------>-<------------------------------
ANK3	AFQSGRDPSKELAGLFEHKSAVSPDVHKSA>A<ETSAQHAEKDNQMKPKLERIIEVHIEKGNQ	2339
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K1993N	c.5979A>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