Skip to main content

Table 2 Nonsynonymous mutations found in CD46 and CFH genes

From: Mutations in genes encoding complement inhibitors CD46 and CFHaffect the age at nephritis onset in patients with systemic lupus erythematosus

Gene SNP number Amino acid a cDNA ATG + 1 Genomic DNA Domain Frequency in SLE patients with/without nephritis (%(n)) Frequency in controls (%(n)) Disease association/function References
       Southern Sweden (n= 43)/(n= 121) Mid Sweden (n= 153)/(n= 205) Southern Sweden (n= 186) Mid Sweden (n= 337)   
CD46 Novel S13F c.38C > T Exon 1 Signal peptide 0(0)/0(0) 0.6(1)/1.0(2) 0(0) 0(0) Healthy controls [16]
CD46 Novel A219V c.656C > T Exon 5 CCP3 2.3(1)/0(0) 0(0)/0(0) 0(0) 0(0) n.d.  
CD46 rs35366573 A353V c.1058 C > T Exon 11 Trans-membrane 11.6(5)/5.0(6) 5.2(8)/3.0(10) 4.8(9) 6.8(23) aHUS, HELLP, GN with C3 deposits and MPGN [27, 3941]
CFH Novel N29D c.85A > G Exon 2 CCP1 0(0)/0(0) 0(0)/0(0) 0(0) 0.3(1) n.d.  
CFH Novel Q400K c.1198C > A Exon 9 CCP7 0(0)/0.8(1) 0(0)/0(0) 0.5(1) 0(0) aHUS [42]
CFH Novel N516K c.1548T > A Exon 11 CCP9 2.3(1)/0(0) 0(0)/0(0) 0(0) 0.3(1) n.d.  
CFH Novel N556S c.1667A > G Exon 11 CCP9 0(0)/0.8(1) 0(0)/0(0) 0(0) 0(0) n.d.  
CFH Novel Q950H c.2850G > T Exon 18 CCP16 4.7(2)/1.7(2) 0(0)/0.5(1) 1.6(3) 0.6(2) aHUS [4345]
CFH Novel F960S c.2879T > A Exon 18 CCP16 0(0)/0(0) 0.7(1)/0(0) 0(0) 0(0) n.d.  
CFH rs35274867 N1050Y c.3148A > T Exon 20 CCP18 2.3(1)/2.5(3) 3.9(6)/2.6(4) 2.2(4) 4.7(16) aHUS, AMD, MPGN2 [44, 4648]
CFH rs62625015 Q1076E c.3226C > G Exon 20 CCP18 0(0)/0.8(1) 0.7(1)/0(0) 0(0) 0(0) aHUS [44, 48]
  1. All mutations were found in a heterozygous form. The difference in mutation frequencies calculated for systemic lupus erythematosus (SLE) patients versus controls and for SLE patients with nephritis versus controls or versus SLE patients without nephritis were not statistically significant according to Fischer's exact text when calculated for all study participants together or divided into the thee cohorts. aHUS, atypical hemolytic uremic syndrome; AMD, age-related macular degeneration; CCP, complement control protein; HELLP, hemolysis, elevated liver enzymes, and low platelets; n.d., not described; GN, glomerulonephritis; MPGN, membranoproliferative glomerulonephritis; MPGN2, membranoproliferative glomerulonephritis type 2. aNumbering including signal sequence.