Table 1 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 |