Table 2.

NPHS2 mutations and polymorphisms detected in patients with steroid-resistant nephrotic syndromea

Type of MutationNucleotide ChangeEffect on Coding SequenceExon/IntronMutation StatusFamily INS No.Patient INS No.Ethnic OriginReference
a het., heterozygous mutation; hom., homozygous mutation; AT, Austrian; PL, Polish; CH, Swiss; G, German; NL, Dutch; HY, Hungarian. Note that in families INS 18, 28, 29, and 46, there was only one heterozygous mutation identified.
Missense mutation851C→TA284V7Het.29ATNovel
7Het.46PL
7Hom.76CH
587G→CR196P5Het.86GNovel
868G→AV290M7Het.86Novel
413G→AR138Q3Hom.11CHBoute et al.2
3Hom.16G
3Het.28G
3Hom.37G
3Hom.41G
3Hom.43NL
3Het.50HY
3Hom.67G
3Het.92G
3Hom.73G
3Hom.90G
538G→AV180M5Hom.72GBoute et al.2
871C→TR291W7Het.18GBoute et al.2
Splice site mutationIVS4-1G→TSplice siteIVS4Hom.74GNovel
Frameshift mutation460–467insTFrameshift4Het.92GNovel
419delGFrameshift3Het.50HYBoute et al.2
855–856delAAFrameshift7Hom.83CHBoute et al.2
Polymorphism686G→AR229Q5Het.18Novel
5Het.29
5Het.46
954T→CA318A8Het.92Wu et al.(11)
8Hom.74Novel
102G→AG34G1Het.83Novel
288C→TS96S2Hom.74Wu et al.(10)
1038A→GL346L8Hom.74Wu et al.(11)