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. 2011 Jun 10;88(6):827–838. doi: 10.1016/j.ajhg.2011.05.008

Figure 3.

Figure 3

Sequence Electropherograms of the Eight Homozygous Mutations Found in FYCO1 and Associated with arCC

Wild-type sequence from normal control individuals is shown in the top panel for comparison. The c.1045C>T (p.Gln349X), c.1546C>T (p.Gln516X)), c.2206C>T (p.Gln736X), c.2761C>T (p. Arg921X), and c.2830C>T (p. Arg944X) mutations result in the generation of a stop codon; the c.3755 delC (Ala1252AspfsX71) and c.3858_3862dupGGAAT (p.Leu1288TrpfsX37) mutations lead to a frameshift and a premature termination of translation; the c. 3150+1 G>T mutation leads to elimination of the intron 9 donor site; and the c.4127T>C (p.Leu1376Pro) mutation results in the change of a leucine residue to a proline residue in exon 16.