Paralogue Annotation for ANK2 residue 3244

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 3244
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 3244

No paralogue variants have been mapped to residue 3244 for ANK2.

ANK2	SSEPAVQVQLDFSTLTRSVYSDRGDDSPDS>S<PEEQKSVIEIPTAPMENVPFTESKSKIPVR	3274
ANK1	------------------------------>-<------------------------------
ANK3	NSQMGVRPHEK-HDFQKDNFNNN--NNLDS>S<TIQTDNI-------MSNIVLTEH--SAPTC	3816
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3244F	c.9731C>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging
p.S3244P	c.9730T>C	Putative Benign			SIFT: Polyphen: