Paralogue Annotation for ANK2 residue 2943

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2943
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2943

No paralogue variants have been mapped to residue 2943 for ANK2.

ANK2	TDANHTTSFHSSEVYSVTITSPVEDVVVAS>S<SSGTVLSKESNFEGQDIKMESQQESTLWEM	2973
ANK1	------------------------------>-<------------------------------
ANK3	TDQKSGAQFFTLEGRHPDRS---------->-<--------------------VFPD------	3517
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2943C	c.8828C>G	Putative Benign		rs371343942	SIFT: deleterious Polyphen: probably 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