No paralogue variants have been mapped to residue 2386 for ANK2.
ANK2 | VIRSPQGL----------ELALPSRD---S>E<VLSAVADDSL-------------AVS---- | 2399 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | VADERRMLSSNIPDGFCEQSAFPKHELSQK>L<SQSSMSKETVETQHFNSIEDEKVTYSEISK | 3024 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2386K | c.7156G>A | Putative Benign | SIFT: tolerated Polyphen: probably damaging |