Paralogue Annotation for ANK2 residue 2362

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2362
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2362

No paralogue variants have been mapped to residue 2362 for ANK2.

ANK2	ALPLPEASVKTD---------------T-G>T<ESKPQGVIRSPQGL----------ELALPS	2382
ANK1	------------------------------>-<------------------------------
ANK3	VLYR-EYVVKEGDHPGGLLDQPSRRSESSA>V<SHIPVRVADERRMLSSNIPDGFCEQSAFPK	2987
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2362P	c.7084A>C	Putative Benign		rs201693280	SIFT: deleterious Polyphen: benign
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
p.T2362N	c.7085C>A	Putative Benign			SIFT: Polyphen: