Table 2.

Effects of NPHS1 mutations according to prediction algorithms and functional studies

Nucleotide AlterationCoding Sequence AlterationExon InvolvedScore of Donor/Acceptor SiteControl ChromosomesPolyPhen ScoreSIFT PredictionCellular LocalizationNephrin HomodimerizationNEPH1 Heterodimerization
c.286C→Gp.L96V30/1881.34 (benign)Not toleratedPlasma membraneIntactIntact
c.319G→Ap.A107T30/1881.50 (benign)Not toleratedPlasma membraneIntactIntact
c.379G→A22p.R460Q110/1901.40 (benign)ToleratedPlasma membraneIntactIntact
c.1724C→Ap.P575Q130/1761.80 (possibly damaging)Not toleratedPlasma membraneIntactIntact
c. 2495T→Cp.L832P180/1822.20 (probably damaging)Not toleratedEndoplasmic reticulum
c.2928G→Tp.R976S22Normal: 0.950/3522.20 (probably damaging)Not toleratedPlasma membrane
Splice site (?)Mutant: 0.79
c.609–2A→CSplice siteIVS5Normal: 0.88
Mutant: 0.00
c.2072–6C→GSplice siteIVS15Normal: 0.880/186
Mutant: 0.26
c.468C→G22p.Y156X4
c.516delCp.T172fs175X4
c.1134–1135delGCp.R379fs417X9
c.1491delCp.S494fs547X12
c.2479C→Tp.R827X18
c. 3720–3735del16p.L1240fs1286X290/176