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LH1 ASN587ARG;GLY592ALA;PRO597ARGFS


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.
SiMPLOD1-328
Isoenzyme
  Follow the links to gather information about the LH1 isoenzyme
Lysyl Hydroxylase 1 (human) - UniProt - Full Info
Nucleotide mutation
  Follow the links to explore annotated information about the significance of the PLOD1 c.[1760_1761delACinsGA; 1775_1788del; 1790C>G] mutation
PLOD1 NM_000302.2:c.[1760_1761delACinsGA; 1775_1788del; 1790C>G] - NCBI RefSeq
Mutation type
  Current information about the clinical implications of the mutation
Pathogenic
LOVD
  Link to Leiden Open Variation Database (LOVD)
c.[1760_1761delACinsGA%3B 1775_1788del%3B 1790C>G]
Disease Phenotype
  Annotated information about disease phenotypes associated to this mutation
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) 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: 225400 Orphanet: ORPHA:1900 ICD-10: Q79.6 MeSH: C536198
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 597, 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.
References
  Publications (and associated links) describing the mutation
Heikkinen et al., 1997 - PubMed
Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure
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)
SiMPLOD2-1061: LH2a SER597SER (SNP)
SiMPLOD1-327: LH1 delta586-634 (Pathogenic)
SiMPLOD1-169: LH1 PRO597LEU (Uncertain significance)
SiMPLOD1-170: LH1 PRO597PRO (Likely benign)
SiMPLOD1-171: LH1 PRO597PRO (SNP)
SiMPLOD1-172: LH1 PRO597SER (Uncertain significance)
SiMPLOD1-327: LH1 delta586-634 (Pathogenic)
Last Update
  An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure
2021-06-23 08:38:51


The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH1 (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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