Paralogue Annotation for ANK2 residue 1848

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1848
Reference Amino Acid: V - Valine
Protein Domain: Repeat-rich region

Paralogue Variants mapped to ANK2 residue 1848

No paralogue variants have been mapped to residue 1848 for ANK2.

ANK2	TEKHSPVSPSAKTERHSPASSSSKTEKHSP>V<SPSTKTERHSPVSSTKTERHPPVSPSGKTD	1878
ANK1	------------------------------>-<------------------------------
ANK3	ETRSEKTPSAPQSAESTGPKPLFHEVPIPP>V<ITETRTEVVHVIRSYDPSAGDVPQTQPEEP	2191
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1848L	c.5542G>T	Putative Benign			SIFT: Polyphen: