Table 2.
Effects of NPHS1 mutations according to prediction algorithms and functional studies
| Nucleotide Alteration | Coding Sequence Alteration | Exon Involved | Score of Donor/Acceptor Site | Control Chromosomes | PolyPhen Score | SIFT Prediction | Cellular Localization | Nephrin Homodimerization | NEPH1 Heterodimerization |
|---|---|---|---|---|---|---|---|---|---|
| c.286C→G | p.L96V | 3 | 0/188 | 1.34 (benign) | Not tolerated | Plasma membrane | Intact | Intact | |
| c.319G→A | p.A107T | 3 | 0/188 | 1.50 (benign) | Not tolerated | Plasma membrane | Intact | Intact | |
| c.379G→A22 | p.R460Q | 11 | 0/190 | 1.40 (benign) | Tolerated | Plasma membrane | Intact | Intact | |
| c.1724C→A | p.P575Q | 13 | 0/176 | 1.80 (possibly damaging) | Not tolerated | Plasma membrane | Intact | Intact | |
| c. 2495T→C | p.L832P | 18 | 0/182 | 2.20 (probably damaging) | Not tolerated | Endoplasmic reticulum | |||
| c.2928G→T | p.R976S | 22 | Normal: 0.95 | 0/352 | 2.20 (probably damaging) | Not tolerated | Plasma membrane | ||
| Splice site (?) | Mutant: 0.79 | ||||||||
| c.609–2A→C | Splice site | IVS5 | Normal: 0.88 | ||||||
| Mutant: 0.00 | |||||||||
| c.2072–6C→G | Splice site | IVS15 | Normal: 0.88 | 0/186 | |||||
| Mutant: 0.26 | |||||||||
| c.468C→G22 | p.Y156X | 4 | |||||||
| c.516delC | p.T172fs175X | 4 | |||||||
| c.1134–1135delGC | p.R379fs417X | 9 | |||||||
| c.1491delC | p.S494fs547X | 12 | |||||||
| c.2479C→T | p.R827X | 18 | |||||||
| c. 3720–3735del16 | p.L1240fs1286X | 29 | 0/176 |