WARNING - protein sequence mismatch! (ASN in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLN in mutation vs in UniProt)WARNING - protein sequence mismatch! (ASP in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (THR in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (PRO in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLY in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLY in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLN in mutation vs in UniProt)WARNING - protein sequence mismatch! (PRO in mutation vs in UniProt)WARNING - protein sequence mismatch! (PRO in mutation vs in UniProt)WARNING - protein sequence mismatch! (PRO in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)

LH3 loop283-297
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.	SiMPLOD3-293
Isoenzyme   Follow the links to gather information about the LH3 isoenzyme	Lysyl Hydroxylase 3 (human) - UniProt - Full Info
Mutation type   Current information about the clinical implications of the mutation	Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
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 EXISTS at the protein level: published experimental data support its existence as protein product.
LH Activity   When available, biochemical data describing the lysyl hydroxylase activity of the mutant are reported	No experimental data available
GT/GGT Activity   When available, biochemical data describing the galactosyltransferase (GT) and glucosylgalactosyltransferase (GGT) activities of the mutant are reported	+
References   Publications (and associated links) describing the mutation	Heikkinen et al., 2000 - DOI - PubMed
Notes from publications   A curated excerpt with information about the mutation from the publications found above	To characterize PLOD3 activity Heikkinen et al. used polyclonal antibodies against the PLOD3 aminoacid sequence 283–297. Binding of the antibodies in this region partially inhibited glycosyltranferase activity.
Structural Observations   An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure	Use of specific antibodies to block this region
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-855: LH1 ASP271ASP (SNP) SiMPLOD3-388: LH3 ASN283ASP (SNP) SiMPLOD3-432: LH3 ASN283SER (SNP) SiMPLOD1-1190: LH1 GLU272LYS (Uncertain significance) SiMPLOD2-1099: LH2a PHE284PHE (SNP) SiMPLOD2-1100: LH2a PHE284LEU (SNP) SiMPLOD3-368: LH3 GLN284GLU (SNP) SiMPLOD3-375: LH3 GLN284ARG (SNP) SiMPLOD2-1114: LH2a ASP285ASN (SNP) SiMPLOD2-1115: LH2a ASP285HIS (SNP) SiMPLOD3-659: LH3 ARG286GLN (SNP) SiMPLOD3-713: LH3 ARG286TRP (SNP) SiMPLOD1-31: LH1 ARG275HIS (Uncertain significance) SiMPLOD1-32: LH1 ARG275LEU (SNP) SiMPLOD2-1022: LH2a VAL287VAL (SNP) SiMPLOD2-961: LH2a ASP288ASN (SNP) SiMPLOD2-962: LH2a ASP288HIS (SNP) SiMPLOD1-823: LH1 LYS278LYS (SNP) SiMPLOD1-829: LH1 LYS278ARG (SNP) SiMPLOD1-830: LH1 LYS278THR (SNP) SiMPLOD3-360: LH3 PRO290PRO (SNP) SiMPLOD1-779: LH1 GLY279ASP (SNP) SiMPLOD3-360: LH3 PRO290PRO (SNP) SiMPLOD1-1194: LH1 ILE280THR (Uncertain significance) SiMPLOD3-360: LH3 PRO290PRO (SNP) SiMPLOD1-104: LH1 GLY281GLU (Uncertain significance) SiMPLOD3-617: LH3 GLY291ALA (SNP) SiMPLOD3-618: LH3 GLY291GLU (SNP) SiMPLOD3-619: LH3 GLY291VAL (SNP) SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD1-787: LH1 ASP282ASP (SNP) SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD2-1036: LH2a ASP293VAL (SNP) SiMPLOD2-1098: LH2a ASP293ASN (SNP) SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD1-863: LH1 LEU285LEU (SNP) SiMPLOD2-970: LH2a HIS295TYR (SNP) SiMPLOD2-1033: LH2a HIS295LEU (SNP) SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD1-714: LH1 PRO286SER (SNP) SiMPLOD1-903: LH1 PRO286PRO (SNP) SiMPLOD3-299: LH3 PRO296ARG (Uncertain significance) SiMPLOD3-300: LH3 PRO296LEU (SNP) SiMPLOD3-315: LH3 PRO296HIS (Uncertain significance) SiMPLOD3-565: LH3 PRO296PRO (SNP) SiMPLOD1-193: LH1 THR287THR (Uncertain significance) SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD1-919: LH1 THR287MET (Uncertain significance) SiMPLOD3-365: LH3 ARG297GLY (SNP) SiMPLOD3-366: LH3 ARG297TRP (SNP) SiMPLOD3-699: LH3 ARG297GLN (SNP)
Last Update   An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH3 (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): LH3 homology modelLH3 with Fe2+ and 2-OG (PDB 6FXK)LH3 with Fe2+, 2-OG and Mn2+ (PDB 6FXM)LH3 with Fe2+, 2-OG, Mn2+ and UDP-Gal (PDB 6FXR)LH3 with Fe2+, 2-OG, Mn2+ and UDP-Glc (PDB 6FXT)