Paralogue Annotation for ANK2 residue 996

Residue details

Gene: ANK2
Reference Sequences: LRG: LRG_327, Ensembl variant: ENST00000264366 / ENSP00000264366
Amino Acid Position: 996
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to ANK2 residue 996

No paralogue variants have been mapped to residue 996 for ANK2.

ANK2	SGFLVSFMVDARGGAMRGCRHNGLRIIIPP>R<KCTAPTRVTCRLVKRHRLATMPPMVEGEGL	1026
ANK1	TGFLVSFMVDARGGSMRGSRHNGLRVVIPP>R<TCAAPTRITCRLVKPQKLSTPPPLAEEEGL	971
ANK3	SGFLVSFMVDARGGSMRGSRHHGMRIIIPP>R<KCTAPTRITCRLVKRHKLANPPPMVEGEGL	1042
cons	> <

See full Alignment of Paralogues

Known Variants in ANK2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R996Q	c.2987G>A	Putative Benign		rs200124480	SIFT: deleterious Polyphen: probably damaging