Paralogue Annotation for ANK2 residue 2023

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 2023
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 2023

No paralogue variants have been mapped to residue 2023 for ANK2.

ANK2	QTI----------------------KRGQR>L<PVTGTAESKR-----GVRVSSIGVKKEDAA	2048
ANK1	------------------------------>-<------------------------------
ANK3	KDLSRGDINLKDFLPEKHDAFPCSEEQGQQ>E<EEELTAEESLPSYLESSRVNTPVSQEEDSR	2423
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2023F	c.6067C>T	Putative Benign			SIFT: Polyphen: