Mutations described in ENAM
| Genomic DNA* | cDNA† | Location | Protein‡ | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|
| *Reference sequence for GenBank accession No AY167999; the A of the initiator ATG is taken as +1. | ||||||
| †Reference sequence for GenBank accession No AFa25373; the A of the initiator ATG is taken as +1. | ||||||
| ‡Initiator methionine as the +1 position. | ||||||
| AD, autosomal dominant; AR, autosomal recessive. | ||||||
| g.2382A>T | c.157A>T | Exon 5 | p.K53X | Local hypoplastic | AD | Mardh16 |
| g.6395G>A | IVS8+1G>A; c.534+1G>A | Intron 8 | p.A158_Q178 | Smooth hypoplastic | AD | Rajpar14 |
| g.8344delG | IVS9+1delG; c.588+1delG | Intron 9 | p.N197fsX277 | Smooth hypoplastic | AD | Kida15; Hart5 |
| g.13185_13186insAG | c.1258_1259insAG | Exon 10 | p.P422fsX448 | Hypoplastic | AR | This report |