S.NO | Uniprot ID | Protein Name | Sequence Length | FZ Region | Mutation | Involvement of Repeats in Mutations |
1 | Q9Y5Q5 | Atrial natriuretic peptide-converting enzyme | 1042 | 26 26 D->A: Impairs cell membrane targeting when associated with A-30 30 30 M->A: Impairs cell membrane targeting when associated with A-26 134 134 R->A: Does not affect autocatalytic cleavage 164 164 R->A: Affects autocatalytic cleavage and production of Atrial natriuretic peptide-converting enzyme, 160 kDa soluble fragment 180 180 R->A: Does not affect autocatalytic cleavage 213 213 R->A: Does not affect autocatalytic cleavage 239 239 R->A: Does not affect autocatalytic cleavage 244 244 R->A: Does not affect autocatalytic cleavage 427 427 R->A: Affects autocatalytic cleavage and production of Atrial natriuretic peptide-converting enzyme, 100 kDa soluble fragment 801 801 R->A: Loss of activity towards NPPA 985 985 S->A: Loss of activity towards NPPA | Y |