Table 2.
Patient Code | Exon 3 | Exon 2* | A3H protein** |
---|---|---|---|
A3H genotype (rs139297) | A3H genotype (rs79323350) | ||
EC-1 | G/G | - | Inactive |
EC-2 | R/G | N15/N15del | Inactive |
EC-3 | R/G | N15/N15 | Active |
EC-4 | G/G | - | Inactive |
EC-5 | G/G | - | Inactive |
EC-6 | G/G | - | Inactive |
EC-7 | R/G | N15/N15del | Inactive |
EC-8 | G/G | - | Inactive |
EC-9 | G/G | - | Inactive |
EC-10 | R/R | N15/N15del | Active |
EC-11 | G/G | - | Inactive |
EC-12 | G/G | - | Inactive |
EC-13 | G/G | - | Inactive |
EC-14 | R/R | N15/N15del | Active |
EC-15 | G/G | - | Inactive |
EC-16 | R/G | N15/N15del | Inactive |
EC-17 | R/G | N15/N15del | Inactive |
EC-18 | R/G | N15/N15 | Active |
EC-19 | R/G | N15/N15 | Active |
EC-20 | G/G | - | Inactive |
EC-21 | G/G | - | Inactive |
EC-22 | G/G | - | Inactive |
EC-23 | G/G | - | Inactive |
EC-24 | R/G | N15/N15 | Active |
EC-25 | R/G | N15/N15del | Inactive |
EC-26 | G/G | - | Inactive |
EC-27 | R/G | N15/N15del | Inactive |
EC-28 | R/G | N15/N15del | Inactive |
EC-29 | G/G | - | Inactive |
EC-30 | R/R | N15/N15 | Active |
NC-3 | G/G | - | Inactive |
NC-4 | G/G | - | Inactive |
NC-5 | G/G | - | Inactive |
NC-6 | G/G | - | Inactive |
NC-7 | R/R | N15del/ N15del | Inactive |
NC-8 | R/R | N15del/ N15del | Inactive |
NC-9 | G/G | - | Inactive |
NC-11 | G/G | - | Inactive |
NC-14 | G/G | - | Inactive |
NC-15 | R/G | N15/N15 | Active |
NC-16 | R/R | N15del/ N15del | Inactive |
* SNP rs79323350 in exon 2 was genotyped only in EC and NC subjects carrying R/G or R/R genotypes at SNP rs139297 in exon 3. ** Haplotype analyses were done for patients showing both variants in heterozygosis to define A3H status.