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Table 2 Genotypes of 10 children with CNS

From: Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome

Patient Exon Nucleotide change amino acid substitution Mutation type Mutation status Mutation origin Novel mutation Functional effect
PolyPhen SIFT
NPHS1 gene (RS: NM_004646.3)
 1 7 c.802C > T p.R268X Nonsense Het F No
10 c.1528A > C p.C528G Missense Het M No damaging deleterious
 2 20 c.2788C > T p.Q930X Nonsense Het F Yes
27 c.3442delC p.Q1148fsX1179 Frameshift Het M Yes
 3 26 c.3325C > T p.R1109X Nonsense Het M No
27 c.3478C > T p.A1160X Nonsense Het F No
 4 13 IVS12 + 1C > A NC Splicing Het M Yes
24 c.3213delG p.G1071fsX1142 Frameshift Het F Yes
 5 26 c.3325C > T p.R1109X Nonsense Het M No
27 IVS26DS-2A > T NC Splicing Het F Yes
 6 8 c.928G > A p.D310N Missense Het F No damaging deleterious
16 c.2131C > G p.R711G Missense Het M No damaging deleterious
 7 3 c.349G>A p.E117K Missense Het M No damaging deleterious
8 c.928G > A p.D310N Missense Het F No damaging deleterious
 9 10 c.1550G > T p.T517K Missense Het F Yes damaging deleterious
10 c.1559G > A p.S520 L Missense Het M Yes damaging deleterious
WT1 gene (RS: NM_024426.4)
 11 8 c.1334C > T p.R445Q Missense Het De novo Yes damaging deleterious
COQ6 gene (RS: NM_182476.2)
 12 9 c.1078C > T p.R360W Missense Hom Parents Yes damaging deleterious
  1. NC no change; −: No need for prediction; RS reference sequence