No paralogue variants have been mapped to residue 2383 for ANK2.
ANK2 | ESKPQGVIRSPQGL----------ELALPS>R<D---SEVLSAVADDSL-------------A | 2397 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | SHIPVRVADERRMLSSNIPDGFCEQSAFPK>H<ELSQKLSQSSMSKETVETQHFNSIEDEKVT | 3018 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2383P | c.7148G>C | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.R2383Q | c.7148G>A | Putative Benign | SIFT: Polyphen: |