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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]
  1. Not determined; aNot determined in patient fibroblasts.