PROS1 gene defects identified in index cases and relatives
| PROS1 gene defect . | Predicted amino acid substitution . | Index cases . | Relatives . |
|---|---|---|---|
| Intron K, A → G, exon 12 − 9 | 9 | 15 | |
| 145, TGT → TAT | 145, C → Y | 5 | 9 |
| 570, ATG → ACG | 570, M → T | 3 | 8 |
| 625, TGT → CGT | 625, C → R | 1 | 6 |
| Intron J, G → A, exon 10 + 5 | 1 | 3 | |
| 581, CTT → CGT | 581, L → R | 1 | 3 |
| Intron A, A → G, exon 1 + 7 | 1 | 2 | |
| Intron L, G → T, exon 13 − 1 | 1 | 2 | |
| 206, TGC → GGC | 206, C → G | 1 | 1 |
| MajorPROS1 gene defect* | 5 | 7 | |
| Total | 28 | 56 |
| PROS1 gene defect . | Predicted amino acid substitution . | Index cases . | Relatives . |
|---|---|---|---|
| Intron K, A → G, exon 12 − 9 | 9 | 15 | |
| 145, TGT → TAT | 145, C → Y | 5 | 9 |
| 570, ATG → ACG | 570, M → T | 3 | 8 |
| 625, TGT → CGT | 625, C → R | 1 | 6 |
| Intron J, G → A, exon 10 + 5 | 1 | 3 | |
| 581, CTT → CGT | 581, L → R | 1 | 3 |
| Intron A, A → G, exon 1 + 7 | 1 | 2 | |
| Intron L, G → T, exon 13 − 1 | 1 | 2 | |
| 206, TGC → GGC | 206, C → G | 1 | 1 |
| MajorPROS1 gene defect* | 5 | 7 | |
| Total | 28 | 56 |
One definite and 4 putative (see text).