LH1 LYS036DELINSPHESERPROHISGLYGLYHISEND
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.	SiMPLOD1-1148
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.84_105dup mutation	PLOD1 NM_000302.2:c.84_105dup - NCBI RefSeq NCBI ClinVar: 592020
Mutation type   Current information about the clinical implications of the mutation	Uncertain significance
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	Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 036, 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.
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	SiMPLOD3-638: LH3 LEU040LEU (SNP) SiMPLOD1-211: LH1 VAL030ALA (Uncertain significance) SiMPLOD3-311: LH3 VAL041VAL (benign) SiMPLOD3-472: LH3 VAL041LEU (SNP) SiMPLOD3-473: LH3 VAL041MET (SNP) SiMPLOD2-972: LH2a ILE042VAL (SNP) SiMPLOD1-186: LH1 THR032MET (Uncertain significance) SiMPLOD3-312: LH3 THR043THR (Likely benign) SiMPLOD1-799: LH1 VAL033VAL (SNP) SiMPLOD1-898: LH1 THR035ALA (SNP) SiMPLOD2-1081: LH2a THR046ALA (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)