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Figure 2 | BMC Medical Genetics

Figure 2

From: A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Figure 2

Characterization of the effect of IVS 5 (c.574+1G>C) and IVS16 (c.2206-2A>G) point mutations on NTRK1 splicing. A. Schematic partial representation of NTRK1 exon/IVS structure, indicating the position of the primer sets (P1-F/P1-R and P2-F/P2-R) designed for RT-PCR analysis. B. Left, agarose gel showing the two differently sized amplicons obtained by PCR analysis of cloned P1-F/P1-R RT-PCR products (see "Methods" section for details). As illustrated on the right, lane 1 fragment corresponds to normally spliced mRNA, encoding the wild-type (wt) NTRK1 protein, whose structural domains are schematically depicted in the figure (LRM: leucine-rich motif; IGL: immunoglobulin-like; TM: transmembrane; TK: tyrosine kinase). Lane 2 fragment corresponds to an abnormally spliced mRNA lacking exon 5. The encoded NTRK1 protein, depicted below, is predicted to bear a premature stop codon following a novel 64 aminoacid sequence after the L100 residue. C. Left, agarose gel showing the three differently sized amplicons obtained by PCR analysis of cloned P2-F/P2-R RT-PCR products. Lane 1 corresponds to normally spliced mRNA. Lane 2 corresponds to an abnormally spliced mRNA retaining a 336 bp fragment of IVS16. The predicted NTRK1 protein, depicted below, would have a premature stop codon following a novel 5 aminoacid sequence after the E375 residue. Lane 3 corresponds to an abnormally spliced mRNA lacking a 21 bp fragment of exon 17. As indicated, this in frame deletion is predicted to encode an NTRK1 protein bearing a 7 aminoacid interstitial (A736_Q742del) deletion in its TK domain.

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