LH1 SER178ARG
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.	SiMPLOD1-178
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.534C>A mutation	PLOD1 NM_000302.2:c.534C>A - NCBI RefSeq NCBI SNP: rs113384442 NCBI ClinVar: 459821
Mutation type   Current information about the clinical implications of the mutation	Uncertain significance
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	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
Notes from publications   A curated excerpt with information about the mutation from the publications found above	Mutation found in a family (spanning 3 generations) with an autosomal dominant novel pathogenic variant in PLOD1 (c.534C>A (p.Ser178Arg), that resulted in the presence of highly penetrant aortic aneurysm and/or aortic dissection. Whilst the PLOD1 p. (Ser178Arg) variant could not be obtained recombinantly in sufficient amounts for biochemical characterization, homologous PLOD3 p. (Asp190Arg) showed a strong reduction in glycosyl transferase donor substrate processing and folding stability compared to the wild-type enzyme.
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-179: LH1 SER178ARG (SNP) SiMPLOD1-180: LH1 SER178SER (Likely benign) SiMPLOD2-1082: LH2a ASP190VAL (SNP) SiMPLOD3-270: LH3 ASP190ALA (for biochemistry) SiMPLOD3-309: LH3 ASP190ASP (benign) SiMPLOD3-310: LH3 ASP190GLU (SNP) SiMPLOD3-593: LH3 ASP190ASN (SNP)
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): LH1 homology modelLH3 with Fe2+ and 2-OG (PDB 6FXK)