Paralogue Annotation for ANK2 residue 2350

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2350
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2350

No paralogue variants have been mapped to residue 2350 for ANK2.

ANK2	SSAHKT-----QTDSEVQESTATSDETKAL>P<LPEASVKTD---------------T-GTES	2364
ANK1	------------------------------>-<------------------------------
ANK3	VTERERKLLTNGSLSEIKEMTVKSPSKKVL>Y<R-EYVVKEGDHPGGLLDQPSRRSESSAVSH	2959
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2350L	c.7049C>T	Putative Benign		rs35960628	SIFT: tolerated 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