LH2a ARG473END (LH2a) - ARG473END (LH2b)
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.	SiMPLOD2-1161
Isoenzyme   Follow the links to gather information about the LH2a isoenzyme	Lysyl Hydroxylase 2a (human) - UniProt - Full Info
Nucleotide mutation   Follow the links to explore annotated information about the significance of the PLOD2 c.1417C>T mutation	PLOD2 NM_000935.2:c.1417C>T - NCBI RefSeq NCBI SNP: rs750664256 NCBI ClinVar: 632404
Mutation type   Current information about the clinical implications of the mutation	Uncertain significance
Disease Phenotype   Annotated information about disease phenotypes associated to this mutation	Bruck Syndrome (Type II) Link1 Link2
Clinical Databases   Link to clinical databases, including OMIM (Online Mendelian Inheritance in Man), Orphanet, ICD-10 (International Statistical Classification of Diseases and Related Health Problems, rev. 10), MeSH (Medical Subject Headings)	OMIM: 609220 Orphanet: ORPHA:2771 ICD-10: M21.8 MeSH: C537407
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	Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 473, and may result in misfolding and/or complete absence of the enzyme. This variant is EXTREMELY UNLIKELY to be compatible with a folded LH enzyme. The representation shown in the structure viewer is therefore for mere display purposes and does not refer to an actual predicted existing protein product.
Structural Observations   An evaluation of the possible effects/implications of the mutations on the LH2a molecular structure
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-43: LH1 ARG463GLN (Uncertain significance) SiMPLOD1-44: LH1 ARG463TRP (Uncertain significance) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD2-1041: LH2a ARG473GLN (SNP) SiMPLOD2-1042: LH2a ARG473LEU (SNP) SiMPLOD2-1160: LH2a ARG473GLY (SNP) SiMPLOD3-389: LH3 ARG473TRP (SNP)
Last Update   An evaluation of the possible effects/implications of the mutations on the LH2a molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH2a (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): LH2a homology modelLH2b homology modelLH3 with Fe2+ and 2-OG (PDB 6FXK)