LH2a THR608ILE (LH2a) - THR629ILE (LH2b) | ||
SiMPLOD ID ![]() |
SiMPLOD2-253 | |
Isoenzyme ![]() |
Lysyl Hydroxylase 2a (human) - UniProt - Full Info | |
Nucleotide mutation ![]() |
PLOD2 NM_000935.2:c.1823C>T - NCBI RefSeq NCBI SNP: rs121434459 NCBI ClinVar: 7641 |
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Mutation type ![]() |
Pathogenic | |
LOVD ![]() |
c.1886C>T | |
Disease Phenotype ![]() |
Bruck Syndrome (Type II) Link1 Link2 | |
Clinical Databases ![]() |
OMIM: 609220 Orphanet: ORPHA:2771 ICD-10: M21.8 MeSH: C537407 | |
Evidence at protein level ![]() |
This variant MAY EXIST at the protein level, although no experimental evidence is currently available to support its existence. | References ![]() |
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 ![]() |
Van der Slot et al. identified the Thr608Ile (629 PLOD2b numbering) mutation in Bruck syndrome patients. Both patients had homozygous mutation. |
Structural Observations ![]() |
Near Arg599 in substrate mimicry structures. 10-fold decreased affinity for 2-OG |
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Related Entries ![]() |
SiMPLOD1-327: LH1 delta586-634 (Pathogenic) | |
Last Update ![]() |
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): |
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