Paralogue Annotation for ANK2 residue 2252

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2252
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2252

No paralogue variants have been mapped to residue 2252 for ANK2.

ANK2	QTGETKESTKTET--TTEIRSEKEHPTTKD>I<TGGSEERGATVTEDSET-------------	2269
ANK1	------------------------------>-<------------------------------
ANK3	YSSQSPTSSSPEKVLLTELLASNDE-WVKA>R<QHGPDGQGFPKAEEKAPSLPSSPEKMVLSQ	2680
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2252T	c.6755T>C	Putative Benign		rs150684838	SIFT: Polyphen: benign