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. 2008 Jun 30;17(18):2886–2893. doi: 10.1093/hmg/ddn187

Figure 1.

Figure 1.

NOTCH1 mutations in LVOT subjects. (A) Molecular characterization of NOTCH1 missense mutations identified in patients. DNA sequence analysis of the eight missense mutations is shown. (B) Schematic representation of the NOTCH1 protein indicating the localization of protein variants identified in this study. LNR=Lin12/Notch repeats. TM, transmembrane domain. (B) Cross species sequence comparison for the highly conserved non-synonymous changes G661S, A683T, R1279H and A1343V.