Classification and characteristics of the PROS1 missense mutations analysed
| . | Mutation . | Amino acid change . | Location . | Cosegregation* . | Deficiency type . | Total protein S† mean (range) . | Free protein S† mean (range) . |
|---|---|---|---|---|---|---|---|
| Group A | |||||||
| PS 23 | 1590G → T | G441C | Exon 12 | 12/24 (+) | I | 47 (35 − 61, n = 9) | 26 (5 − 38, n = 9) |
| PS 2 | 1600A → G | Y444C | Exon 12 | 7/10 (+) | I | 41 (21 − 52, n = 6) | 13 (9 − 26, n = 6) |
| Group B | |||||||
| PS 214‡ | 1827C → G | R520G | Exon 14 | 4/4 (+) | I-III | 82 (71 − 99, n = 3) | 26 (20 − 35, n = 3) |
| APCS 13 | 2147C → T | P626L | Exon 15 | 3/3 (+) | I | 62 (59 − 65, n = 3) | 38 (30 − 49, n = 3) |
| Group C | |||||||
| Ps 17 | 439C → G | T57S | Exon 4 | 1/4 (−) | I-III | 44 (n = 1) | 41 (n = 1) |
| PS 5 | 1823A → G | I518M | Exon 14 | 3/4 (−) | I-III | 65 (49 − 79, n = 3) | 45 (26 − 63, n = 3) |
| PS 225 | 1823A → G | I518M | Exon 14 | 3/8 (−) | III | 97 (89 − 112, n = 3) | 75 (53 − 104, n = 3) |
| . | Mutation . | Amino acid change . | Location . | Cosegregation* . | Deficiency type . | Total protein S† mean (range) . | Free protein S† mean (range) . |
|---|---|---|---|---|---|---|---|
| Group A | |||||||
| PS 23 | 1590G → T | G441C | Exon 12 | 12/24 (+) | I | 47 (35 − 61, n = 9) | 26 (5 − 38, n = 9) |
| PS 2 | 1600A → G | Y444C | Exon 12 | 7/10 (+) | I | 41 (21 − 52, n = 6) | 13 (9 − 26, n = 6) |
| Group B | |||||||
| PS 214‡ | 1827C → G | R520G | Exon 14 | 4/4 (+) | I-III | 82 (71 − 99, n = 3) | 26 (20 − 35, n = 3) |
| APCS 13 | 2147C → T | P626L | Exon 15 | 3/3 (+) | I | 62 (59 − 65, n = 3) | 38 (30 − 49, n = 3) |
| Group C | |||||||
| Ps 17 | 439C → G | T57S | Exon 4 | 1/4 (−) | I-III | 44 (n = 1) | 41 (n = 1) |
| PS 5 | 1823A → G | I518M | Exon 14 | 3/4 (−) | I-III | 65 (49 − 79, n = 3) | 45 (26 − 63, n = 3) |
| PS 225 | 1823A → G | I518M | Exon 14 | 3/8 (−) | III | 97 (89 − 112, n = 3) | 75 (53 − 104, n = 3) |
Cosegregation indicates the number of individuals carrying the identified mutation over the total genotyped; presence (+) or absence (−) of cosegregation between protein S deficiency and the presence of the mutation is indicated.
Total and free protein S is given as percentage of a standard plasma pool; the PS values shown correspond to the mean and range for the heterozygous carriers of the mutations.
Protein S mean levels of total and free protein S for the R520G homozygote are not included in the table. The homozygote is the only individual diagnosed as type I in this family.