Table 1 Nucleotide changes detected in 24 patients with FSGS and/or SRNS from 22 different families

From: Correction: Corrigendum: Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis

No

Gene

Mutation

Status

PolyPhen-2 (HumDiv)

PolyPhen-2 (HumVar)

Grantham score

PhastCons score

GERP score

References and information

1

PTPRO

c.1013c>t

p.S338F

Heterozygote

1

0.998

155

0.996

5.23

rs.200478856

6

NPHS1

c.656c>t

p.A219V

Heterozygote

0.692

0.148

64

0.334

−0.75

Sibling of case 7 rs.757417823

7

NPHS1

c.656c>t

p.A219V

Heterozygote

0.692

0.148

64

0.334

−0.75

Sibling of case 6 rs.757417823

15

NPHS2

c.412c>t

p.R138X

Heterozygote

NA

NA

NA

1

4.91

 
  

c.503g>a

p.R168H

Heterozygote

1

0.999

29

1

4.52

 

22

NPHS2

c.860a>g

p.Q287R

Heterozygote

0.989

0.979

43

1

5.34

rs.200042397

12

LAMB2

c.1406g>a

p.R469Qa

Heterozygote

0.996

0.755

43

0.719

3.44

 
  

c.2095g>c

p.G699R

Heterozygote

0.986

0.593

125

0.992

5.49

rs.28364667

10

CD2AP

c.221g>t

p.R74Ma

Heterozygote

0.966

0.641

91

1

4.65

 

11

CD2AP

c.221g>t

p.R74Ma

Heterozygote

0.966

0.641

91

1

4.65

 

16

TRPC6

c.2624a>t

p.E875Va

Heterozygote

1

0.982

121

1

5.89

 

19

WT1

c.421a>c

p.K141Qa

Heterozygote

0.960

0.545

53

1

2.58

Daughter of case 20

  

c.745c>a

p.P249Ta

 

0.035

0.027

38

1

5.62

 

20

WT1

c.421a>c

p.K141Qa

Heterozygote

0.960

0.545

53

1

2.58

Mother of case 19

  

c.745c>a

p.P249Ta

 

0.035

0.027

38

1

5.62

 

24

INF-2

c.550g>a

p.E184K

Heterozygote

1

0.999

56

0.709

4.48

 
  1. Abbreviations: FSGS, focal glomerular sclerosis; GFRP, Genomic Evolutionary Rate Profiling; NA, not analyzed; SRNS, steroid-resistant nephrotic syndrome.
  2. aNovel mutations.
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