LH2a THR608ILE (LH2a) - THR629ILE (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.	SiMPLOD2-253
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.1823C>T mutation	PLOD2 NM_000935.2:c.1823C>T - NCBI RefSeq NCBI SNP: rs121434459 NCBI ClinVar: 7641
Mutation type   Current information about the clinical implications of the mutation	Pathogenic
LOVD   Link to Leiden Open Variation Database (LOVD)	c.1886C>T
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	This variant MAY EXIST at the protein level, although no experimental evidence is currently available to support its existence.
References   Publications (and associated links) describing the mutation	van der Slot et al., 2003 - DOI - PubMed Hyry et al., 2009 - DOI - PubMed Puig-Hervas et al., 2012 - DOI - PubMed Leal et al., 2018 - DOI - PubMed Breslau-Siderius et al., 1998 - PubMed
Notes from publications   A curated excerpt with information about the mutation from the publications found above	Van der Slot et al. identified the Thr608Ile (629 PLOD2b numbering) mutation in Bruck syndrome patients. Both patients had homozygous mutation.
Structural Observations   An evaluation of the possible effects/implications of the mutations on the LH2a molecular structure	Near Arg599 in substrate mimicry structures. 10-fold decreased affinity for 2-OG
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-327: LH1 delta586-634 (Pathogenic)
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)