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

LH1 delta551-585
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.	SiMPLOD1-326
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.1651-2A>G mutation	PLOD1 NM_000302.2:c.1651-2A>G - NCBI RefSeq
Mutation type   Current information about the clinical implications of the mutation	Pathogenic
LOVD   Link to Leiden Open Variation Database (LOVD)	c.1651-2A>G
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	Rohrbach et al., 2011 - DOI - PubMed Pousi et al., 1998 - DOI - PubMed
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD2-1055: LH2a PRO561ALA (SNP) SiMPLOD2-1056: LH2a PRO561THR (SNP) SiMPLOD3-589: LH3 PRO562SER (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-351: LH3 CYS563PHE (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-168: LH1 PRO553LEU (Uncertain significance) SiMPLOD1-728: LH1 PRO553PRO (SNP) SiMPLOD3-357: LH3 PRO564PRO (SNP) SiMPLOD3-454: LH3 PRO564SER (SNP) SiMPLOD3-497: LH3 PRO564LEU (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-548: LH3 ASP565ASP (SNP) SiMPLOD6-235: LH2b ASP585VAL (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-411: LH3 VAL566MET (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-210: LH1 TYR556CYS (Uncertain significance) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-205: LH1 TRP557SER (Uncertain significance) SiMPLOD6-255: LH2b TRP588CYS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-824: LH1 PHE558LEU (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-815: LH1 PRO559SER (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-1177: LH1 ILE560VAL (Uncertain significance) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-198: LH1 THR562MET (Uncertain significance) SiMPLOD1-199: LH1 THR562THR (Uncertain significance) SiMPLOD2-1074: LH2a SER572SER (SNP) SiMPLOD1-98: LH1 GLU563GLU (Uncertain significance) SiMPLOD1-99: LH1 GLU563ASP (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-570: LH3 GLU574GLU (SNP) SiMPLOD3-571: LH3 GLU574ASP (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD2-994: LH2a LYS574LYS (SNP) SiMPLOD2-1130: LH2a LYS574ASN (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-841: LH1 CYS566PHE (SNP) SiMPLOD1-842: LH1 CYS566TYR (SNP) SiMPLOD2-1080: LH2a CYS576TRP (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-146: LH1 LEU569GLN (Uncertain significance) SiMPLOD1-147: LH1 LEU569LEU (Likely benign) SiMPLOD2-966: LH2a LEU579LEU (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-866: LH1 VAL570MET (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-655: LH3 HIS586ASP (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-533: LH3 TYR587TYR (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-1170: LH3 TRP590END (SNP) SiMPLOD6-333: LH2b TRP610ARG (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD2-977: LH2a GLY591ARG (SNP) SiMPLOD3-661: LH3 GLY592GLY (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-541: LH3 GLY593ARG (SNP) SiMPLOD3-542: LH3 GLY593SER (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD3-515: LH3 ARG594GLN (SNP) SiMPLOD3-516: LH3 ARG594LEU (SNP) SiMPLOD3-588: LH3 ARG594TRP (SNP) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
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)