Mutations and polymorphisms identified in ESPN (GenBank accession number NM_031475)
| Exon | Nucleotide | Protein | ||
|---|---|---|---|---|
| Mutation | ||||
| EX10 | A2155C | S719R | ||
| EX10 | G2230A | D744N | ||
| EX10 | G2321A | R774Q | ||
| EX13 | 2541-2543delAAG | delK848 | ||
| Polymorphism | ||||
| EX2 | C390U | Silent | ||
| EX3 | C564G | Silent | ||
| EX3 | A591G | Silent | ||
| EX3 | G627A | Silent | ||
| EX5 | G909C | Silent | ||
| EX8 | T1476C | Silent |