Table 3

DNA variants of the factor H gene occurring in controls and patients of this series

Polymorphism (cDNA nucleotide)ExonConsequence (amino acid)SCRHealthy probands (n=100)Unrelated HUS cases
*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**262 Val→ Ile10*/4**0*/0**0*/5**
994 C*/A/**7307 Ala→Ala50*/0**5*/1**43*/5**
1277 C*/T**9402 His→Tyr749*/39**5*/21**44*/46**
1492 G*/A**11473 Ala→Ala80*/0**5*/1**44*/13**
2089 A*/G**14672 Gln→Gln1119*/2**10*/4**38*/11**
2707 C/T*18878 His→ His150*/0**0*/0**1*/0**
2881 G*/T**19936 Glu→Asp1617*/3**20*/5**39*/12**
2923 G/T*19950 Gln→His162*/0**0*/0**2*/0**
3211 C/T*211046 Thr→Thr180*/0**0*/0**2*/0**
3221 A/T*211050 Asn→Tyr186*/0**0*/0**2*/0**