370538.fig.003a
(a)
370538.fig.003b
(b)
370538.fig.003c
(c)
370538.fig.003d
(d)
370538.fig.003e
(e)
Figure 3: The location and the predicted effects of the c.2268dup mutation. A schematic diagram shows the position of the c.2268dup in genomic DNA (a) and the possible consequences of the mutation on mRNA splicing (b, c) and translation (d, e). Exon sequences are in uppercase; intron sequences are in lower case letters. Deduced protein sequence is shown in one letter code. First in-frame stop codon is represented by a capital letter “X” {Source: http://www.ncbi.nlm.nih.gov/nuccore/NM_000547.5 (NCBI Reference Sequence: NM_000547.5)}.