Genotype details of patients
| Mutation | Effect of mutation | Exon | Discoidin domain missense | Consequences of mutation14,16 | No. of patients(total 86) | No. of families with mutation |
|---|---|---|---|---|---|---|
| *Novel mutation; †mutation found as part of this study. | ||||||
| 78G>C* | E26D* | 2 | No | Not tested | 1 | 1 |
| 79-2A>G | AtoG splice acc | 3 | Intronic | Truncating | 4 | 1 |
| 267T>A | Y92X | 4 | No | Truncating | 8 | 1 |
| 304C>T | R102W | 4 | Yes | No secretion | 16 | 6 |
| 305G>A | R102Q | 4 | Yes | No secretion | 4 | 1 |
| 308T>G† | L103R | 4 | Yes | Not tested | 4 | 1 |
| 325G>C | G109R | 4 | Yes | No secretion | 7 | 2 |
| 326+1G>A | GtoA donor sp | 4 | Intronic | Truncating | 2 | 1 |
| 329G>A | C110Y | 5 | Yes | Not tested | 1 | 1 |
| 419G>A | G140E | 5 | Yes | Not tested | 4 | 1 |
| 421C>G | R141G | 5 | Yes | Reduced secretion | 2 | 1 |
| 421C>T | R141C | 5 | Yes | No secretion | 14 | 5 |
| 460C>T | Q154X | 5 | Yes | Truncating | 1 | 1 |
| 574C>G | P192A | 6 | Yes | Not tested | 1 | 1 |
| 574C>T† | P192S | 6 | Yes | Not tested | 3 | 2 |
| 578C>T† | P193L | 6 | Yes | Not tested | 2 | 1 |
| 579^580insC | insC579 | 6 | Truncating | Truncating | 2 | 2 |
| 596T>C | I199T | 6 | Yes | Not tested | 2 | 1 |
| 598C>T | R200C | 6 | Yes | Not tested | 6 | 3 |
| 655T>G | C219G | 6 | Yes | Reduced oligomerisation | 2 | 1 |