LH1 ARG046CYS
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.	SiMPLOD1-914
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.136C>T mutation	PLOD1 NM_000302.2:c.136C>T - NCBI RefSeq NCBI SNP: rs138698098 NCBI ClinVar: 242450
Mutation type   Current information about the clinical implications of the mutation	Likely pathogenic
Disease Phenotype   Annotated information about disease phenotypes associated to this mutation	no disease phenotype information available
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.
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-18: LH1 ARG046HIS (Uncertain significance) SiMPLOD3-427: LH3 ARG057CYS (SNP) SiMPLOD3-428: LH3 ARG057SER (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)