No paralogue variants have been mapped to residue 2393 for ANK2.
ANK2 | L----------ELALPSRD---SEVLSAVA>D<DSL-------------AVS-------HKDS | 2403 |
ANK1 | ------------------------------>-<------------------------------ | |
ANK3 | LSSNIPDGFCEQSAFPKHELSQKLSQSSMS>K<ETVETQHFNSIEDEKVTYSEISKVSKHQSY | 3031 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2393E | c.7179T>G | Putative Benign | SIFT: tolerated Polyphen: probably damaging |