Table 1 Summary of the functionally analysed EFNB1 mutations
From: The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function
Mutation | Exon/intron | Cell type | EFNB1mRNA | Ephrin-B1 protein | References |
|---|---|---|---|---|---|
c.196C > T p.R66X | Exon 2 | Patient fibroblasts | wt level | N.d. | This report |
c.377_384 delTCAAGAAG | Exon 2 | Patient fibroblasts | Strongly reduced amount (NMD) | N.d. | [21] |
c.614_615 delCT | Exon 4 | Patient fibroblasts | wt level (NMD escape) | No protein detected | This report, [21] |
c.406+2T > C | Intron 3 | Patient fibroblasts | Reduced amount | No protein detected | This report |
c.407-2A > T | Intron 3 | Patient fibroblasts | Strongly reduced amount (NMD) | N.d. | [21] |
c.161C > T p.P54L | Exon 2 | Patient fibroblasts and transfected NIH 3T3 cells | wt level | Protein, but no EphB2-activated phosphorylation | This report, [21] |
c.332C > T p.T111I | Exon 2 | Transfected NIH 3T3 cells | N.d.a | Protein, but altered EphB2-activated phosphorylation | This report |
c.409A > G p.T137A | Exon 3 | Patient fibroblasts | wt level | N.d. | [21] |