DNA variants of the factor H gene occurring in controls and patients of this series
| Polymorphism (cDNA nucleotide) | Exon | Consequence (amino acid) | SCR | Healthy probands (n=100) | Unrelated HUS cases | |
|---|---|---|---|---|---|---|
| (Mutation+)(n=16) | (Mutation−)(n=95) | |||||
| *Heterozygous; **homozygous; ‡Polyhen prediction of effect of amino acid substitution.26 | ||||||
| The variant FH1 c. 2923 G/T has not been reported as a polymorphism in other series so far and may therefore be associated with a risk for HUS. | ||||||
| 257 G/A** | 2 | 62 Val→ Ile | 1 | 0*/4** | 0*/0** | 0*/5** |
| 994 C*/A/** | 7 | 307 Ala→Ala | 5 | 0*/0** | 5*/1** | 43*/5** |
| 1277 C*/T** | 9 | 402 His→Tyr | 7 | 49*/39** | 5*/21** | 44*/46** |
| 1492 G*/A** | 11 | 473 Ala→Ala | 8 | 0*/0** | 5*/1** | 44*/13** |
| 2089 A*/G** | 14 | 672 Gln→Gln | 11 | 19*/2** | 10*/4** | 38*/11** |
| 2707 C/T* | 18 | 878 His→ His | 15 | 0*/0** | 0*/0** | 1*/0** |
| 2881 G*/T** | 19 | 936 Glu→Asp | 16 | 17*/3** | 20*/5** | 39*/12** |
| 2923 G/T* | 19 | 950 Gln→His | 16 | 2*/0** | 0*/0** | 2*/0** |
| 3211 C/T* | 21 | 1046 Thr→Thr | 18 | 0*/0** | 0*/0** | 2*/0** |
| 3221 A/T* | 21 | 1050 Asn→Tyr | 18 | 6*/0** | 0*/0** | 2*/0** |