3V4Q: Structure of R335W mutant of human Lamin

Citation:
Abstract
Dilated cardiomyopathy (DCM) is a condition whereby the normal muscular function of the myocardium is altered by specific or multiple aetiologies. About 25-35% of DCM patients show familial forms of the disease, with most mutations affecting genes encoding cytoskeletal proteins. Most of the DCM-related mutations fall in the Lamin AC gene, in particular in the Coil2B domain of the encoded protein. In this context, we focussed our studies on the crystal structures of two lamin Coil2B domain mutants (R335W and E347K). Both R335 and E347 are higly conserved residues whose substitution has little effects on the Coil2B domain three-dimensional structure; we can thus hypothesize that the mutations may interfere with the binding of components within the nuclear lamina, or of nuclear factors, that have been proposed to interact/associate with lamin A/C.
PDB ID: 3V4QDownload
MMDB ID: 97643
PDB Deposition Date: 2011/12/15
Updated in MMDB: 2018/06
Experimental Method:
x-ray diffraction
Resolution: 3.06  Å
Source Organism:
Similar Structures:
Biological Unit for 3V4Q: monomeric; determined by author
Molecular Components in 3V4Q
Label Count Molecule
Protein (1 molecule)
1
Prelamin-a/c(Gene symbol: LMNA)
Molecule annotation
* Click molecule labels to explore molecular sequence information.

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