Figure 2 | European Journal of Human Genetics

Figure 2

From: Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic

Figure 2

Sequences of the mutations generating premature termination codons (PTCs) in ephrin-B1 gene (EFNB1). Mutation c.407-2A>T at the splice acceptor site of exon 2 causes retention of intron 2. This creates an internal PTC located 36 codons downstream of the exon 2 junction site. Sequence of exon 2 is shown in bold, the 5′ part of intron 2 is shown in italic letters. Frameshift mutation c.377_384del causes a first PTC located three codons downstream of the 8 bp deletion in exon 2. Sequence of exon 2 is shown in bold letters, the deleted 8 bp are underlined and the novel HinfI site is highlighted. Frameshift mutation c.614_615delCT generates a PTC. It appears 11 nucleotides upstream of the exon 4 junction site. Sequence of exon 4 is shown in bold letters, the deleted 2 bp are underlined, the novel stop codon TGA is set in grey, and the HinfI site is highlighted.

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