Paralogue Annotation for ANK2 residue 2383

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2383
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2383

No paralogue variants have been mapped to residue 2383 for ANK2.

ANK2	ESKPQGVIRSPQGL----------ELALPS>R<D---SEVLSAVADDSL-------------A	2397
ANK1	------------------------------>-<------------------------------
ANK3	SHIPVRVADERRMLSSNIPDGFCEQSAFPK>H<ELSQKLSQSSMSKETVETQHFNSIEDEKVT	3018
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2383P	c.7148G>C	Putative Benign			SIFT: tolerated Polyphen: benign
p.R2383Q	c.7148G>A	Putative Benign			SIFT: Polyphen: