Table 4.

Results of SNP and CFH risk haplotype analysis in carriers of the C3 R570Q mutation

SNPrs800292rs1061170rs3753396rs1065489
Nucleotidec.184G>Ac.1204T>Cc.2016A>Gc.2881G>T
Amino AcidV26IY402HQ672QD936E
SCRSCR1SCR7SCR11SCR16
Patient
III.7GGTCGATG
III.9bGGTTGGTT
III.10bGGTTGGTT
IV.12GGTTGATG
IV.14GGTTGATG
IV.16GGTTGATG
IV.21GGTTGATG
V.16aGGTCAAGG
V.18GATTAAGG
  • SCR, short consensus repeat.

  • a V0.16 is the index patient.

  • b Carriers homozygous for the risk haplotype H3 CFHgtgt.