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Table 2 The missense and splicing mutations detected in FSGS patients and compared with controls from 1000 Genomes Project

From: A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis

Exon

dbSNP144

Position

Transcript consequence

Protein consequence

Patients

(n = 309)

Controls

(n = 2504)

P value

Bonferroni-corrected P value

Nephrin domain

Initial phenotype

Missense

 1

rs191850409

35851824

c.C14T

p.T5M

3 (0.97%)

3 (0.12%)

0.020

> 0.05

Sp

Unknown

 2

rs116617171

35851666

c.C65T

p.A22V

3 (0.97%)

9 (0.36%)

0.14

> 0.05

Ig 1

CNS [42], SRNS [43]

 3

rs3814995

35851310

c.G349A

p.E117K

256 (82.85%)

418 (16.69%)

2.19 × 10−14

7.01 × 10−13

Ig 1

CNS [42], MCNS [41]

SRNS/FSGS [43]

 6

rs201822740

35849646

c.C616A

p.P206T

1 (0.32%)

1 (0.04%)

0.21

> 0.05

Ig 2

Unknown

 7

rs201234008

35849314

c.C762A

p.H254Q

1 (0.32%)

1 (0.04%)

0.21

> 0.05

Ig 3

Unknown

 7

rs115308424

35849273

c.G803A

p.R268Q

5 (1.62%)

11 (0.44%)

0.024

> 0.05

Ig 3

Unknown

 8

rs113825926

35849107

c.C881T

p.T294I

1 (0.32%)

8 (0.32%)

1.00

> 0.05

Ig 3

MCNS [41], SRNS [43]

 10

rs33950747

35848345

c.G1223A

p.R408Q

1 (0.32%)

42 (1.68%)

0.081

> 0.05

Ig 4

CNS [9, 25, 42], MCNS [41], FSGS [44]

 11

rs28939695

35848142

c.G1339A

p.E447K

14 (4.53%)

16 (0.64%)

7.93 × 10−7

2.54 × 10−5

Ig 5

MsPGN/ FSGS/ SRNS [18], CNS [42], CNF [45]

 14

rs114615449

35845496

c.G1802C

p.G601A

8 (2.59%)

9 (0.36%)

1.94 × 10−4

6.19 × 10−3

Ig 6

SRNS [18]

 17

rs777418609

35843557

c.A2249G

p.E750G

1 (0.32%)

0

0.11

> 0.05

Ig 7

Unknown

 17

rs115976159

358434987

c.C2309T

p.P770L

1 (0.32%)

0

0.11

> 0.05

Ig 7

Unknown

 18

rs114896482

35842487

c.C2398T

p.R800C

10 (3.24%)

4 (0.16%)

1.49 × 10−7

4.78 × 10−6

Ig 7

SRNS [18, 40], MCNS [41]

 19

–

35842149

c.G2638 T

p.V880F

1 (0.32%)

0

0.11

> 0.05

Ig 8

Novel

 21

rs114849139

35839554

c.G2869C

p.V957vL

3 (0.97%)

9 (0.36%)

0.14

> 0.05

Fn

CNS [19, 42, 46]

 24

rs4806213

35831699

c.A3230G

p.N1077S

2 (0.65%)

228 (9.11%)

7.67 × 10−10

2.45 × 10−8

Tm

SRNS [18], CNS [25, 42], CNF [47,48,49], MCNS [41]

 24

rs199646631

35831655

c.C3274T

p.R1092C

1 (0.32%)

1 (0.04%)

0.21

> 0.05

Tm

FSGS [18]

Splicing

–

35830957

C > T

–

1 (0.32%)

0

0.11

> 0.05

–

Unknown

  1. Unknown = Have not seen the relevant report at present. Statistical analysis was done by χ2 test
  2. Tm transmembrane domain, Fn fibronectin type III motif, Ig immunoglobulin motif, Sp signal peptide
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BMC Medical Genetics

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