Table 1. Pedigrees and subjects available for analysis by genotype.
| Pedigree | Number of subjects analyzed |
Mutation nucleotide | Amino Acid Mutation |
Number of Subjects Mutation (+) |
Number of Subjects Mutation (−) |
|---|---|---|---|---|---|
| A | 1 | 266G>T | Arg89Leu | 1 | 0 |
| B | 1 | 302G>C | Arg101Pro | 1 | 0 |
| C | 2 | 357-1G>T | splice site | 2 | 0 |
| D | 1 | 497G>C | Arg166Pro | 1 | 0 |
| E | 2 | 497G>C | Arg166Pro | 1 | 1 |
| F | 3 | 569G>A | Arg190Gln | 3 | 0 |
| G | 36 | 607G>A | Glu203Lys | 19 | 17 |
| H | 1 | 629T>G | Ile210Ser | 1 | 0 |
| I | 12 | 644T>C | Leu215Pro | 11 | 1 |
| J | 32 | 673C>T | Arg225X | 13 | 19 |
| K | 1 | 700C>T | Gln234X | 1 | 0 |
| M | 1 | 1114delG | Glu372ArgfsX107 | 1 | 0 |
| O | 3 | 1195C>T | Arg399Cys | 2 | 1 |
| P | 4 | 1307_1308insGCAC | Ser437HisfsX1 | 4 | 0 |
| Q | 1 | 1412G>A | Arg471His | 1 | 0 |
| S | 2 | 1960C>T | Arg654X | 2 | 0 |
Pedigrees L, N, R were excluded from analysis (see Methods)