TABLE I.
AMELX Mutations
| Genomic DNA | cDNA | Protein | Male phenotype | Reference |
|---|---|---|---|---|
| g.2T >C | c.2T >C | p.M1T | Smooth hypoplastic (normal mineralization) | Kim et al. [2004] |
| g.11G >C | c.11G >C | p.W4S | Smooth hypoplastic (normal mineralization) | Kim et al. [2004] |
| g.11G >A | c.11G >A | p.W4X | Smooth hypoplastic (normal mineralization) | Sekiguchi et al. [2001] |
| g.14_22del | c.14_22del | p.I5_A8delinsT | Smooth hypoplastic (normal mineralization) | Lagerström-Fermer and Landegren [1995] |
| g.1148_54del | c.55_54del | p.18del | Hypomaturation (some hypoplasia) | Lagerström et al. [1991] |
| g.3455C >T | c.152C >T | p.T51I | Hypomaturation (some hypoplasia) | Lench and Winter [1995] |
| g.3458delC | c.155delC | p.P52fsX53 | Hypomaturation (some hypoplasia, variable) | Aldred et al. [1992b]; Lench et al. [1994] |
| g.3781C >A | c.208C >A | p.P70T | Hypomaturation (some hypoplasia) | Collier et al. [1997]; Hart et al. [2000] |
| g.3803A >T | c.230A >T | p.H77L | Hypomaturation | Hart et al. [2002] |
| g.3958delC | c.385delC | p.H129fsX187 | Smooth hypoplastic | Sekiguchi et al. [2001] |
| g.3993delC | c.420delC | p.Y141fsX187 | Smooth hypoplastic | Greene et al. [2002] |
| g.4046delC | c.473delC | p.P158fsX187 | Smooth hypoplastic | Lench and Winter [1995] |
| g.4114delC | c.541delC | p.L181fsX187 | Smooth hypoplastic (some hypomineralization) | Kindelan et al. [2000]; Hart et al. [2001] |
| g.4144G >T | c.571G >T | p.E191X | Smooth hypoplastic | Lench and Winter [1995] |