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Figure 2 | Italian Journal of Pediatrics

Figure 2

From: Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis

Figure 2

Novel Mutations on CLCN7 gene in a case of OP with inconsistent phenotype. A) Electrophoregram showing the c.948C > T transition on Exon 10 of CLCN7 gene. B) The c.948C > T produces a change of Arg 280 to Cys (R280C) on the cytosolic loop between the 5th and 6th alfa transmembrane idrofobic domains. C) Electrophoregram showing the 23459 + 5 bp G > A transition (Ivs11 + 5 bp G > A) located on the donor splice site of intron 11. D) Asseda bioinformatic analysis of the effect of the Ivs11 + 5 bp G > A transition: the Ri score, drops down from the highest values of 4.1 for wild type to 0.9 for the mutant with a predicted folding change of -9.1 According to this evaluation an abberrant splicing could take place leading to the skipping of the Exon 12 using an alternative donor splice site with a calculated Ri of 3.46.

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