Paralogue Annotation for ANK2 residue 1791

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 1791
Reference Amino Acid: S - Serine
Protein Domain: Repeat-rich region

Paralogue Variants mapped to ANK2 residue 1791

No paralogue variants have been mapped to residue 1791 for ANK2.

ANK2	KEDVPKKTTHRPHPAASPSLKSERHAPGSP>S<PKTERHSTLSS-------------------	1802
ANK1	------------------------------>-<------------------------------
ANK3	FEDAKKDGEERQKRVLKPAIALQEHKLKMP>P<ASMRTSTSEKELCKMADSFFGTDTILESPD	2113
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1791P	c.5371T>C	Putative Benign		rs199473344	SIFT: tolerated Polyphen: possibly damaging
Reports		Putative Benign		Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 2(11):1218-23. 16253912