From: Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome
Family | Gene | Genomic region | Protein prediction | Mutation type | Protein region | Low–molecular-weight Proteinuria | Predicted cubilin cell-surface expression |
---|---|---|---|---|---|---|---|
AMN | |||||||
1 and 2 | c.208-2A>G A /c.208-2A>G | Intron 3 | p.Leu70Alafs | Frameshift | Extracellular domain | Yes* | NoA |
3 | c.1006 + 11_1008del/ | Intron 9 | p.Glu337Asnfs | Frameshift | Extracellular domain | Yes* | No† and ♦ |
c.1006 + 11_1008del | |||||||
4 | c.1041_1042delinsCTC/ | Exon 10/ | p.Glu348Serfs/ | Frameshift/ | Extracellular domain/ | Yes* | No♦ |
c.208-2A>G A | intron3 | p.Leu70Alafs | Frameshift | Extracellular domain | |||
CUBN | |||||||
5 | c.3335G>A/c.3335G>A | Exon 24 | p.Gly1112Glu | Missense | CUB 6 | Yes* | No† and ♦ |
6 | c.3890C>T/c.3890C>T B | Exon 27 | p.Pro1297Leu | Missense | CUB 8 | (no)* | YesC |