Search for genetic variants reported in the human PLOD1, PLOD2, and PLOD3 genes to obtain structural mapping of these mutations on gene products, either using experimentally determined crystal structures (for LH3/PLOD3) or using computational homology models of LH1/PLOD1 and LH2/PLOD2 obtained using the LH3/PLOD3 crystal structures as templates. For each variant, the change in nucleotide sequence and the corresponding change in aminoacid sequence is shown. The disease phenotype is reported for pathogenic mutations. Each mutation page, is accompanied by additional information from literature (main citation, available information on enzymatic activity), annotations about its localization on the enzyme's three-dimensional structure, and on the mutation and useful links to the main mutation databases (NCBI gene, Uniprot, NCBI SNP) , as well as disease phenotype information and specific links to disease annotation databases (OMIM, Orphanet, ICD-10, MeSH) in the case of pathogenic mutations.

The SiMPLOD interface allows localization of the desired mutation(s) on the protein structure, enabling structure browsing and generation of high-definition structural visualizations also for non non-expert users. Several options for structure representation and colouring are present, as well as options for mutations and domain and mutation centering. As default option, the LH/PLOD dimer is coloured using blue for the N-terminal glycosyltranferase (GT) domain, orange for the central accessory (AC) domain and green for the C-terminal lysyl-hydroxylase (LH) domain. For mutations generating premature termination codon, the truncated portion of the enzyme is coloured in white, and disclaimers about possible unfolding/complete lack of expression are present. A drop down menu allows to select the molecular structure for visualization. You can test the viewer using the demo page, which randomly picks a mutation from the database.