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Table 4 Pathogenicity predicted by three software for the non-synonymous mutations

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

Dbsnp144

Position

Transcript Consequence

Protein Consequence

SIFT

Polyphen

MutationTaster

rs191850409

35851824

c.C14T

p.T5M

Tolerated

Benign

Polymorphism

rs116617171

35851666

c.C65T

p.A22V

Damaging

Benign

Polymorphism

rs3814995

35851310

c.G349A

p.E117K

Tolerated

Probably damaging

Polymorphism automatic

rs201234008

35849314

c.C762A

p.H254Q

Tolerated

Benign

Polymorphism

rs115308424

35849273

c.G803A

p.R268Q

Tolerated

Benign

Polymorphism

rs113825926

35849107

c.C881T

p.T294I

Tolerated

Benign

Polymorphism

rs33950747

35848345

c.G1223A

p.R408Q

Tolerated

Probably damaging

Disease causing

rs28939695

35848142

c.G1339A

p.E447K

Tolerated

Probably damaging

Disease causing automatic

rs777418609

35843557

c.A2249G

p.E750G

Damaging

Possibly damaging

Polymorphism

rs114896482

35842487

c.C2398T

p.R800C

Tolerated

Benign

Polymorphism

–

35842149

c.G2638 T

p.V880F

Tolerated

Benign

Polymorphism

rs4806213

35831699

c.A3230G

p.N1077S

Damaging

Benign

Polymorphism automatic

  1. Three different software are used to predict the likelihood of causing disease: SIFT, Polyphen and MutationTaster