Paralogue Annotation for ANK2 residue 2248

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2248
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2248

No paralogue variants have been mapped to residue 2248 for ANK2.

ANK2	KSEEQTGETKESTKTET--TTEIRSEKEHP>T<TKDITGGSEERGATVTEDSET---------	2269
ANK1	------------------------------>-<------------------------------
ANK3	NGKEYSSQSPTSSSPEKVLLTELLASNDE->W<VKARQHGPDGQGFPKAEEKAPSLPSSPEKM	2676
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2248M	c.6743C>T	Putative Benign			SIFT: Polyphen: