Table 1.
Mutations associated with Hartnup disorder
| Mutation (DNA) | Mutation (protein) | Frequency | Reference |
|---|---|---|---|
| Missense | |||
| 169C>T | R57C | n.r. | ( 4) |
| 196G>A | G66R | <0.001 | ( 37) |
| 205G>A | A69T | n.r. | ( 48) |
| 277G>A | G93R | <0.001 | ( 37) |
| 517G>A | D173N | 0.004–0.007 | ( 5) |
| 532C>T | R178X | <0.001 | ( 37) |
| 719G>A | R240Q | <0.001 | ( 5) |
| 725T>C | L242P | n.r. | ( 5) |
| 794C>T | P265L | n.r. | ( 48) |
| 850G>A | G284R | <0.001 | ( 37) |
| 982C>T | R328C | <0.001 | ( 37) |
| 1213G>A | E405K | <0.001 | ( 37) |
| 1501G>A | E501K | n.r. | ( 5) |
| 1550A>G | D517G | <0.001 | ( 37) |
| 1735C>T | P579L | n.r. | ( 48) |
| Nonsense | |||
| 682‐683AC>TA | T228X | n.r. | ( 4) |
| 718C>T | R240X | 0.001 | ( 5) |
| Deletions | |||
| 340delC | L114fsX114 | n.r. | ( 4) |
| c884_885delTG | V295fsX351 | n.r. | ( 4) |
| Splice site | |||
| IVS8 + 2G | Aberrant splicing | <0.01 | ( 5) |
| IVS11 + 1A | Aberrant splicing | n.r. | ( 5) |
n.r.: not reported.