WARNING - protein sequence mismatch! (ASP in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLU in mutation vs in UniProt)WARNING - protein sequence mismatch! (ALA 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! (THR in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLY in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL in mutation vs in UniProt)WARNING - protein sequence mismatch! (PHE in mutation vs in UniProt)WARNING - protein sequence mismatch! (ILE in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLU 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! (THR in mutation vs in UniProt)WARNING - protein sequence mismatch! (PRO in mutation vs in UniProt)WARNING - protein sequence mismatch! (PHE in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL in mutation vs in UniProt)WARNING - protein sequence mismatch! (SER in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (PHE in mutation vs in UniProt)WARNING - protein sequence mismatch! (PHE in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLN in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (HIS in mutation vs in UniProt)WARNING - protein sequence mismatch! (TYR in mutation vs in UniProt)WARNING - protein sequence mismatch! (PRO in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLN in mutation vs in UniProt)WARNING - protein sequence mismatch! (LYS in mutation vs in UniProt)WARNING - protein sequence mismatch! (HIS in mutation vs in UniProt)WARNING - protein sequence mismatch! (MET in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (PHE in mutation vs in UniProt)WARNING - protein sequence mismatch! (ILE in mutation vs in UniProt)WARNING - protein sequence mismatch! (HIS in mutation vs in UniProt)WARNING - protein sequence mismatch! (ASN in mutation vs in UniProt)WARNING - protein sequence mismatch! (HIS in mutation vs in UniProt)

LH1 delta282-325
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.	SiMPLOD1-319
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.975+2_975+3insTT mutation	PLOD1 NM_000302.2:c.975+2_975+3insTT - NCBI RefSeq
Mutation type   Current information about the clinical implications of the mutation	Pathogenic
LOVD   Link to Leiden Open Variation Database (LOVD)	c.975%2B2_975%2B3insTT
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 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.
References   Publications (and associated links) describing the mutation	Pajunen et al., 1998 - DOI - PubMed
Notes from publications   A curated excerpt with information about the mutation from the publications found above	A homozygous insertion of two thymidines at the 5' splice site consensus sequence of intron 9 in the lysyl hydroxylase gene results interferes with normal splicing of the primary RNA transcript and results in an inframe deletion of the 132 nucleotides coded by exon 9 (Asp282_His325del). All analyses were performed at the mRNA level, no investigation of possible protein levels.
Structural Observations   An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure	This variant includes a whole exon skipping, with removal of a large portion of the protein
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-787: LH1 ASP282ASP (SNP) SiMPLOD3-293: LH3 loop283-297 (for biochemistry) SiMPLOD2-1036: LH2a ASP293VAL (SNP) SiMPLOD2-1098: LH2a ASP293ASN (SNP) SiMPLOD3-293: LH3 loop283-297 (for biochemistry) SiMPLOD3-293: LH3 loop283-297 (for biochemistry) SiMPLOD1-863: LH1 LEU285LEU (SNP) SiMPLOD2-970: LH2a HIS295TYR (SNP) SiMPLOD2-1033: LH2a HIS295LEU (SNP) SiMPLOD3-293: LH3 loop283-297 (for biochemistry) SiMPLOD1-714: LH1 PRO286SER (SNP) SiMPLOD1-903: LH1 PRO286PRO (SNP) SiMPLOD3-293: LH3 loop283-297 (for biochemistry) 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) SiMPLOD1-919: LH1 THR287MET (Uncertain significance) SiMPLOD3-293: LH3 loop283-297 (for biochemistry) SiMPLOD3-365: LH3 ARG297GLY (SNP) SiMPLOD3-366: LH3 ARG297TRP (SNP) SiMPLOD3-699: LH3 ARG297GLN (SNP) SiMPLOD2-1048: LH2a VAL298VAL (SNP) SiMPLOD3-491: LH3 VAL298GLY (SNP) SiMPLOD1-219: LH1 VAL290VAL (Likely benign) SiMPLOD1-105: LH1 GLY291SER (Uncertain significance) SiMPLOD3-639: LH3 ALA301ALA (SNP) SiMPLOD1-1201: LH1 VAL292MET (Uncertain significance) SiMPLOD3-634: LH3 VAL302LEU (SNP) SiMPLOD3-635: LH3 VAL302MET (SNP) SiMPLOD1-812: LH1 ILE294ILE (Likely benign) SiMPLOD1-733: LH1 GLU295LYS (SNP) SiMPLOD2-1014: LH2a GLN306ARG (SNP) SiMPLOD1-194: LH1 THR298MET (Uncertain significance) SiMPLOD1-763: LH1 THR298THR (SNP) SiMPLOD2-935: LH2a THR308SER (SNP) SiMPLOD3-581: LH3 THR308THR (SNP) SiMPLOD1-161: LH1 PRO299PRO (Likely benign) SiMPLOD1-837: LH1 PRO299GLN (SNP) SiMPLOD1-838: LH1 PRO299LEU (SNP) SiMPLOD3-480: LH3 PRO309PRO (SNP) SiMPLOD3-547: LH3 PRO309LEU (SNP) SiMPLOD1-181: LH1 SER302TYR (Likely benign) SiMPLOD1-182: LH1 SER302PHE (SNP) SiMPLOD2-249: LH2a PRO312THR (Uncertain significance) SiMPLOD2-941: LH2a PRO312ARG (SNP) SiMPLOD2-942: LH2a PRO312LEU (SNP) SiMPLOD2-1131: LH2a ARG313TRP (SNP) SiMPLOD2-1144: LH2a ARG313GLN (SNP) SiMPLOD3-421: LH3 ARG313HIS (SNP) SiMPLOD3-687: LH3 ARG313CYS (SNP) SiMPLOD3-712: LH3 ARG313ARG (SNP) SiMPLOD1-769: LH1 PHE304LEU (SNP) SiMPLOD2-1087: LH2a ASP316GLY (SNP) SiMPLOD1-33: LH1 ARG307GLN (Uncertain significance) SiMPLOD1-860: LH1 ARG307ARG (SNP) SiMPLOD1-861: LH1 ARG307GLY (SNP) SiMPLOD1-862: LH1 ARG307TRP (SNP) SiMPLOD2-1071: LH2a ILE317VAL (SNP) SiMPLOD3-564: LH3 ARG317GLN (SNP) SiMPLOD2-978: LH2a LEU318PHE (SNP) SiMPLOD1-34: LH1 ARG310GLN (Uncertain significance) SiMPLOD1-924: LH1 LEU311PHE (Uncertain significance) SiMPLOD3-676: LH3 LEU321LEU (SNP) SiMPLOD3-677: LH3 LEU321MET (SNP) SiMPLOD1-111: LH1 HIS312HIS (Likely benign) SiMPLOD2-1110: LH2a PRO324ARG (SNP) SiMPLOD2-1111: LH2a PRO324LEU (SNP) SiMPLOD3-114: LH3 PRO325PRO (Likely benign) SiMPLOD1-814: LH1 LYS316LYS (SNP) SiMPLOD1-923: LH1 LYS316THR (Uncertain significance) SiMPLOD3-587: LH3 ASP326ASN (SNP) SiMPLOD1-112: LH1 HIS317HIS (Likely benign) SiMPLOD1-931: LH1 HIS317ASN (Uncertain significance) SiMPLOD3-382: LH3 ARG327ARG (SNP) SiMPLOD3-383: LH3 ARG327GLY (SNP) SiMPLOD3-384: LH3 ARG327TRP (SNP) SiMPLOD3-656: LH3 VAL328LEU (SNP) SiMPLOD1-35: LH1 ARG319END (Pathogenic) SiMPLOD1-805: LH1 ARG319GLN (SNP) SiMPLOD1-806: LH1 ARG319LEU (SNP) SiMPLOD2-1077: LH2a LEU330LEU (SNP) SiMPLOD3-673: LH3 LEU330PHE (SNP) SiMPLOD3-674: LH3 LEU330VAL (SNP) SiMPLOD3-710: LH3 PHE331PHE (SNP) SiMPLOD3-711: LH3 PHE331LEU (SNP) SiMPLOD1-133: LH1 ILE322ASN (Uncertain significance) SiMPLOD1-878: LH1 ASN324SER (SNP) SiMPLOD1-113: LH1 HIS325HIS (Conflicting interpretations) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-426: LH3 ASN335ASN (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)