LH3 PRO296ARG
SiMPLOD ID   This is the unique identifier for this mutation in the SiMPLOD database. Please use this identifier when linking information described in SiMPLOD about this mutation.	SiMPLOD3-299
Isoenzyme   Follow the links to gather information about the LH3 isoenzyme	Lysyl Hydroxylase 3 (human) - UniProt - Full Info
Nucleotide mutation   Follow the links to explore annotated information about the significance of the PLOD3 c.887C>G mutation	PLOD3 NM_001084.4:c.887C>G - NCBI RefSeq NCBI SNP: rs143577626 NCBI ClinVar: 547022
Mutation type   Current information about the clinical implications of the mutation	Uncertain significance
Disease Phenotype   Annotated information about disease phenotypes associated to this mutation	no disease phenotype information available
Evidence at protein level   Based on available structural and biochemical information, a statement about the existence of an LH enzyme variant bearing the described mutation is provided	This variant EXISTS at the protein level: published experimental data support its existence as protein product.
LH Activity   When available, biochemical data describing the lysyl hydroxylase activity of the mutant are reported	No experimental data available
GT/GGT Activity   When available, biochemical data describing the galactosyltransferase (GT) and glucosylgalactosyltransferase (GGT) activities of the mutant are reported	No experimental data available
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD1-714: LH1 PRO286SER (SNP) SiMPLOD1-903: LH1 PRO286PRO (SNP) SiMPLOD3-293: LH3 loop283-297 (for biochemistry) SiMPLOD3-300: LH3 PRO296LEU (SNP) SiMPLOD3-315: LH3 PRO296HIS (Uncertain significance) SiMPLOD3-565: LH3 PRO296PRO (SNP)
Last Update   An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH3 (generated using the crystal structure of full-length human LH3 as template). You may select a different PDB model file to visualize the mutation(s) using the drop-down menu below (page will refresh): LH3 homology modelLH3 with Fe2+ and 2-OG (PDB 6FXK)LH3 with Fe2+, 2-OG and Mn2+ (PDB 6FXM)LH3 with Fe2+, 2-OG, Mn2+ and UDP-Gal (PDB 6FXR)LH3 with Fe2+, 2-OG, Mn2+ and UDP-Glc (PDB 6FXT)