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LH2a CYS385ARG (LH2a) - CYS385ARG (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.
SiMPLOD2-236
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.1153T>C mutation
PLOD2 NM_000935.2:c.1153T>C - NCBI RefSeq
Mutation type
  Current information about the clinical implications of the mutation
Pathogenic
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
Lv et al., 2018 - DOI - PubMed
Notes from publications
  A curated excerpt with information about the mutation from the publications found above
Lv et al. described a patient with the heterozygous mutation Cys385Arg in PLOD2 which, together with Gly661Asp, caused Bruck syndrome. Clinical features are described.
Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-320: LH1 delta367-443 (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).

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