Table 1. Identified mutations of the sodium iodide symporter gene causing ITD.
| Mutation | Result | Reference |
|---|---|---|
| p.Thr354Pro (T354P) | Non-functioning NIS protein Impaired Na+ binding Proper membrane targeting |
(Fujiwara et al., 1997; Fujiwara et al., 1998; Kosugi et al., 1998a; Kosugi et al., 1998b; Matsuda et al., 1997; Tatsumi et al., 1998) |
| p.Gln267Glu (Q267E) | Non-functioning NIS protein Decrease of NIS turnover number Proper membrane targeting |
(Pohlenz et al., 1998) |
| p.Tyr531X (Y531X) p.Ser509ArgfsX7 (FS515X) |
67 nt. deletion, frameshift, premature stop, truncated NIS protein | (Pohlenz et al., 1998) |
| p.Cys272X (C272X) | Premature stop, truncated NIS protein | (Pohlenz et al., 1997) |
| p.Gly93Arg (G93R) | Non-functioning NIS protein | (Kosugi et al., 1998a) |
| p.Gly543Glu (G543E) | Non-functioning NIS protein Defective NIS maturation and membrane trafficking |
(Kosugi et al., 1998a) |
| p.Gly395Arg (G395R) | Non-functioning NIS protein Defective Na+/I-coupling Proper membrane targeting |
(Kosugi et al., 1999) |
| p.Val59Glu (V59E) | Non-functioning NIS protein | (Fujiwara et al., 2000) |
| p.Met143_Gln323del (DelM143-Q323) | Non-functioning NIS protein Impaired membrane trafficking |
(Kosugi et al., 2002a) |
| p.Ala439_Pro443del (DelA439-P443) | Non-functioning NIS protein | (Tonacchera et al., 2003) |
| p.Arg124His (R124H) | Non-functioning NIS protein Proper membrane targeting |
(Szinnai et al., 2006) |