No paralogue variants have been mapped to residue 1012 for ANK2.
ANK2 | RGCRHNGLRIIIPPRKCTAPTRVTCRLVKR>H<RLATMPPMVEGEGLASRLIEVGPSGAQFLG | 1042 |
ANK1 | RGSRHNGLRVVIPPRTCAAPTRITCRLVKP>Q<KLSTPPPLAEEEGLASRIIALGPTGAQFLS | 987 |
ANK3 | RGSRHHGMRIIIPPRKCTAPTRITCRLVKR>H<KLANPPPMVEGEGLASRLVEMGPAGAQFLG | 1058 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1012R | c.3035A>G | Putative Benign | rs113488555 | SIFT: deleterious Polyphen: probably damaging |