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

LH1 delta586-634
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.	SiMPLOD1-327
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.1756-?_1902+?del mutation	PLOD1 NM_000302.2:c.1756-?_1902+?del - NCBI RefSeq
Mutation type   Current information about the clinical implications of the mutation	Pathogenic
LOVD   Link to Leiden Open Variation Database (LOVD)	c.1756-?_1902+?del
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	Pousi et al., 1998 - DOI - PubMed Hilderink et al., 1995 - PubMed Krieg et al., 1979 - PubMed Ihme et al., 1984 - DOI - PubMed
Notes from publications   A curated excerpt with information about the mutation from the publications found above	This partial deletion in PLOD1 gene was reported by Pousi et al. in a patient with Ehlers-Danlos Syndrome Type VI (combined with a splicing defect in the other allele). The phenotype associated to this variant was also reported as Nevo Syndrome, now merged with Kyphoscholiotic Ehlers-Danlos (type VIa) syndrome.
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-328: LH1 ASN587ARG;GLY592ALA;PRO597ARGFS (Pathogenic) SiMPLOD2-1061: LH2a SER597SER (SNP) SiMPLOD1-47: LH1 ARG588LEU (Uncertain significance) SiMPLOD1-48: LH1 ARG588HIS (SNP) SiMPLOD1-870: LH1 ARG588CYS (SNP) SiMPLOD1-871: LH1 ARG588GLY (SNP) SiMPLOD2-229: LH2a ARG598HIS (Pathogenic) SiMPLOD2-992: LH2a ARG598CYS (SNP) SiMPLOD3-620: LH3 ARG599TRP (SNP) SiMPLOD3-690: LH3 ARG599ARG (SNP) SiMPLOD3-691: LH3 ARG599SER (SNP) SiMPLOD2-982: LH2a ILE599VAL (SNP) SiMPLOD1-807: LH1 GLY591ALA (SNP) SiMPLOD1-808: LH1 GLY591ASP (SNP) SiMPLOD2-241: LH2a GLY601VAL (Pathogenic) SiMPLOD6-240: LH2b GLY622CYS (Pathogenic) SiMPLOD1-328: LH1 ASN587ARG;GLY592ALA;PRO597ARGFS (Pathogenic) SiMPLOD1-778: LH1 TYR593TYR (SNP) SiMPLOD3-672: LH3 TYR604TYR (SNP) SiMPLOD1-100: LH1 GLU594LYS (Uncertain significance) SiMPLOD1-101: LH1 GLU594END (SNP) SiMPLOD1-741: LH1 ASN595ASN (SNP) SiMPLOD1-928: LH1 ASN595LYS (Uncertain significance) SiMPLOD3-458: LH3 ASN606ASN (SNP) SiMPLOD3-459: LH3 ASN606LYS (SNP) SiMPLOD1-223: LH1 VAL596VAL (Benign/Likely benign) SiMPLOD1-224: LH1 VAL596VAL (SNP) SiMPLOD1-896: LH1 VAL596MET (SNP) SiMPLOD6-334: LH2b VAL627ALA (Pathogenic) SiMPLOD1-169: LH1 PRO597LEU (Uncertain significance) SiMPLOD1-170: LH1 PRO597PRO (Likely benign) SiMPLOD1-171: LH1 PRO597PRO (SNP) SiMPLOD1-172: LH1 PRO597SER (Uncertain significance) SiMPLOD1-328: LH1 ASN587ARG;GLY592ALA;PRO597ARGFS (Pathogenic) SiMPLOD2-253: LH2a THR608ILE (Pathogenic) SiMPLOD1-337: LH1 ILE599FS (Pathogenic) SiMPLOD3-600: LH3 VAL610MET (SNP) SiMPLOD1-825: LH1 HIS602HIS (SNP) SiMPLOD1-826: LH1 HIS602GLN (SNP) SiMPLOD2-952: LH2a MET613VAL (SNP) SiMPLOD1-136: LH1 ILE606ILE (Likely benign) SiMPLOD1-137: LH1 ILE606ILE (Conflicting interpretations) SiMPLOD1-780: LH1 GLY607CYS (SNP) SiMPLOD1-781: LH1 GLY607SER (SNP) SiMPLOD3-469: LH3 GLY618GLY (SNP) SiMPLOD3-408: LH3 TYR619TYR (SNP) SiMPLOD3-610: LH3 GLU620LYS (SNP) SiMPLOD1-895: LH1 ARG610GLN (SNP) SiMPLOD1-1195: LH1 ARG610TRP (Uncertain significance) SiMPLOD2-1104: LH2a ASN620SER (SNP) SiMPLOD3-1165: LH3 GLN622END (SNP) SiMPLOD1-206: LH1 TRP612END (Uncertain significance) SiMPLOD1-207: LH1 TRP612CYS (Pathogenic) SiMPLOD1-122: LH1 HIS613SER (for biochemistry) SiMPLOD3-364: LH3 GLN625ARG (SNP) SiMPLOD2-1040: LH2a ILE626THR (SNP) SiMPLOD3-1147: LH3 LEU627PRO (Pathogenic) SiMPLOD2-1012: LH2a ARG627GLN (SNP) SiMPLOD2-1069: LH2a ARG627GLY (SNP) SiMPLOD2-1070: LH2a ARG627TRP (SNP) SiMPLOD3-650: LH3 ARG628GLN (SNP) SiMPLOD3-678: LH3 THR629THR (SNP) SiMPLOD3-706: LH3 THR629MET (SNP) SiMPLOD2-248: LH2a PHE629SER (Likely pathogenic) SiMPLOD3-316: LH3 TYR630END (Likely pathogenic) SiMPLOD3-462: LH3 TYR630CYS (SNP) SiMPLOD3-463: LH3 TYR630PHE (SNP) SiMPLOD3-464: LH3 TYR630SER (SNP) SiMPLOD1-329: LH1 PRO622ARGFS (Pathogenic) SiMPLOD1-739: LH1 ALA621VAL (SNP) SiMPLOD2-1085: LH2a ALA631VAL (SNP) SiMPLOD3-468: LH3 GLY632GLY (SNP) SiMPLOD1-173: LH1 PRO622LEU (Uncertain significance) SiMPLOD1-329: LH1 PRO622ARGFS (Pathogenic) SiMPLOD1-930: LH1 PRO622SER (Uncertain significance) SiMPLOD3-540: LH3 MET634VAL (SNP) SiMPLOD1-768: LH1 THR624ARG (SNP) SiMPLOD1-932: LH1 THR624MET (Uncertain significance) SiMPLOD3-604: LH3 THR635ILE (SNP) SiMPLOD2-995: LH2a LEU635LEU (SNP) SiMPLOD3-623: LH3 GLU636LYS (SNP) SiMPLOD1-877: LH1 LYS626LYS (SNP) SiMPLOD3-466: LH3 SER637ILE (SNP) SiMPLOD3-467: LH3 SER637THR (SNP) SiMPLOD3-700: LH3 LEU638LEU (SNP) SiMPLOD1-1156: LH1 TYR628END (SNP) SiMPLOD3-439: LH3 PRO640PRO (SNP) SiMPLOD1-756: LH1 GLY630SER (SNP) SiMPLOD2-242: LH2a GLY640ASP (Pathogenic) SiMPLOD1-933: LH1 TYR631CYS (Uncertain significance) SiMPLOD2-1109: LH2a TYR641CYS (SNP) SiMPLOD3-386: LH3 TYR642TYR (SNP) SiMPLOD2-987: LH2a THR643MET (SNP) SiMPLOD2-991: LH2a THR643THR (SNP) SiMPLOD1-49: LH1 ARG634ARG (Uncertain significance)
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)