Type of mutations distributed by allele in families with mixed cystinuria
| Genotype | Families | Alleles | |
|---|---|---|---|
| Phenotype I | Phenotype non-I | ||
| Explained | Explained | ||
| The urine phenotype of the obligate heterozygotes was used to classify the phenotype associated to each allele. | |||
| *The proband carries three mutations, two mutations A (one in each SLC3A1 allele) and one mutation B in one of the SLC7A9 alleles (see fig 2B). | |||
| †The proband carries three mutations, two mutations B (one in each SLC7A9 allele) and one mutation A in one of the SLC3A1 alleles (see fig 2A). | |||
| AA | 2 | 2 | 2 |
| AA(B)* | 1 | 1 | 1 |
| BB | 7 | 7 | 7 |
| BB(A)† | 1 | 1 | 1 |
| A? | 1 | 1 | 0 |
| B? | 2 | 0 | 2 |
| Total | 14 | 12 | 13 |