No paralogue variants have been mapped to residue 2384 for ANK2.
ANK2 | SKPQGVIRSPQGL----------ELALPSR>D<---SEVLSAVADDSL-------------AV | 2398 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | HIPVRVADERRMLSSNIPDGFCEQSAFPKH>E<LSQKLSQSSMSKETVETQHFNSIEDEKVTY | 3019 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2384H | c.7150G>C | Putative Benign | rs372545180 | SIFT: deleterious Polyphen: possibly damaging |