Paralogue Annotation for ANK2 residue 2369

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2369
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2369

No paralogue variants have been mapped to residue 2369 for ANK2.

ANK2	SVKTD---------------T-GTESKPQG>V<IRSPQGL----------ELALPSRD---SE	2386
ANK1	------------------------------>-<------------------------------
ANK3	VVKEGDHPGGLLDQPSRRSESSAVSHIPVR>V<ADERRMLSSNIPDGFCEQSAFPKHELSQKL	2994
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2369A	c.7106T>C	Other Cardiac Phenotype		rs199473345	SIFT: tolerated Polyphen: benign
Reports		Other Cardiac Phenotype		Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064
p.Val2369Phe	c.7105G>T	Unknown			SIFT: Polyphen: