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 |