Please click here to obtain permission to reproduce this image.
Click on image to view larger version.
Figure 1 Position of LMNA Gene Mutations
The position of lamin A/C (LMNA) gene mutations are shown according to the nuclear localization signal (NLS) that spans residues 416 to 423: the region upstream of the NLS encodes the central alpha-helical rod domain, and the region downstream of the NLS encodes the homology box, including the beta-immunoglobulin–like fold and a deoxyribonucleic acid binding region. In red, we show missense, insertions/deletions, and stop mutations; in blue, intervening sequence mutations. The 3-dimensional reconstruction of the LMNA/C protein was made using Cn3D software, version 4.1, by loading the 2 sequence proteins NP733821 and NP005563; in particular, the illustration emphasizes the rod domain (green worms) and the globular domain (brown and light blue worms) with respect to the NLS sequence.
|
