LH2a ARG420CYS (LH2a) - ARG420CYS (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.	SiMPLOD2-1143
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.1258C>T mutation	PLOD2 NM_000935.2:c.1258C>T - NCBI RefSeq NCBI SNP: rs142041189
Mutation type   Current information about the clinical implications of the mutation	SNP without clinical evidence
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	SiMPLOD1-39: LH1 ARG410GLN (Uncertain significance) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-820: LH1 ARG410GLY (SNP) SiMPLOD1-821: LH1 ARG410TRP (SNP) SiMPLOD2-1019: LH2a ARG420PRO (SNP) SiMPLOD2-1132: LH2a ARG420HIS (SNP) SiMPLOD3-492: LH3 ARG420HIS (SNP) SiMPLOD3-598: LH3 ARG420CYS (SNP)
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). You may select a different PDB model file to visualize the mutation(s) using the drop-down menu below (page will refresh): LH2a homology modelLH2b homology modelLH3 with Fe2+ and 2-OG (PDB 6FXK)