Table 5

Reported factor H gene mutations; summary of literature reports

CaseMutation (cDNA nucleotide)ExonConsequence (amino acid)SCRC3Factor HFamilyReference
*Homozygous; **mutations on the same allele; ***other chromosome, n.r., not reported; nap, note added in proof of this publication.
Cases with one mutation
I155–158 del 4 bp2Premature Stop1LowLowSporadic16 Case
II1494 del A11Frameshift8LowNormal2 patients and 1 unaffected brother23 Fam 3
III2940 C/T19956 Thr→Met16NormalHighMother carrier without HUS24 HUS 12
IV3429 A/G221119 Asp→Gly19NormalNormalSibling HUS28 Case 2
V3620 T/C231183 Trp→Arg20NormalNormalBrother with aHUS35 Case rep
VI3621 G/T231183 Trp→Leu20LowHighn.r.24, 35 HUS 2
VII3624 C/G231184 Thr→Arg20LowNormalSporadic28 Case 4
VIII3639 T/G231189 Leu→ Arg20NormalHighFather mutation negative24 HUS 11
IX3654 G/A231194 Gly→Asp20n.r.n.r.n.r. 36
X3663 T/C231197 Val→Ala20LowLowSporadic23 nap
XI3701 C/T231210 Arg→Cys20Normal.NormalFather and 2/5 siblings carriers, no HUS23 R 16
XII3701 C/T231210 Arg→Cys20LowNormal/HighSiblings with HUS, father carrier23 Fam 24
XIII3701 C/T231210 Arg→Cys20Low.Normal5 other (healthy) carriers including sister and father 29
XIV3716 C/G231215 Arg to Gly20NormalNormalSporadic6, 28 Case 3
XV3717 C/A231215 Arg→Gln20LowNormalCarriers: father and grandfather23 Fam 1
XVIdel 24 bp*23Premature Stop20LowLowAutosomal recessive23 Fam 29
Cases with two mutations
XVII3299 C/G and211076 Gln→Glu18n.r.n.r.Sporadic28 Case 1
3559 del A22Frame shift19
XVIII3645 C/T** and231191 Ser→Leu20n.r.n.r.Mother HUS28 Case 5
3663 T/C**231197 Val→Ala20
XIX3663 T/C* and231197 Val→Ala20LowLown.r.24 HUS 3
Partial deletion***