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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.