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WARNING - protein sequence mismatch! (ASP in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU in mutation vs in UniProt)WARNING - protein sequence mismatch! (CYS in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG 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! (SER in mutation vs in UniProt)WARNING - protein sequence mismatch! (CYS in mutation vs in UniProt)WARNING - protein sequence mismatch! (THR 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! (PHE in mutation vs in UniProt)WARNING - protein sequence mismatch! (SER in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL in mutation vs in UniProt)WARNING - protein sequence mismatch! (ASP in mutation vs in UniProt)WARNING - protein sequence mismatch! (ALA 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! (ALA in mutation vs in UniProt)WARNING - protein sequence mismatch! (LEU 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! (PRO in mutation vs in UniProt)WARNING - protein sequence mismatch! (ASN 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! (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! (ILE in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLN in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLN 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)WARNING - protein sequence mismatch! (ASN in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL 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! (LEU 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! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (HIS in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLY 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! (TRP in mutation vs in UniProt)WARNING - protein sequence mismatch! (SER in mutation vs in UniProt)WARNING - protein sequence mismatch! (ASN in mutation vs in UniProt)WARNING - protein sequence mismatch! (PHE in mutation vs in UniProt)WARNING - protein sequence mismatch! (TRP in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLY 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! (SER in mutation vs in UniProt)WARNING - protein sequence mismatch! (ALA in mutation vs in UniProt)WARNING - protein sequence mismatch! (ASP 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! (ALA in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (SER in mutation vs in UniProt)WARNING - protein sequence mismatch! (GLU in mutation vs in UniProt)WARNING - protein sequence mismatch! (ASP in mutation vs in UniProt)WARNING - protein sequence mismatch! (TYR in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL 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! (VAL 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! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (ARG in mutation vs in UniProt)WARNING - protein sequence mismatch! (VAL in mutation vs in UniProt)
LH1 delta367-443


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.
SiMPLOD1-320
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.(1097+1_1098-1)_(1328+1_1329-1)del mutation
PLOD1 NM_000302.2:c.(1097+1_1098-1)_(1328+1_1329-1)del - NCBI RefSeq
Mutation type
  Current information about the clinical implications of the mutation
Pathogenic
LOVD
  Link to Leiden Open Variation Database (LOVD)
c.(1097%2B1_1098-1)_(1328%2B1_1329-1)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.
Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD1-10: LH1 ALA366VAL (Uncertain significance)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-872: LH1 ALA366THR (SNP)
SiMPLOD2-1073: LH2a MET376ILE (SNP)
SiMPLOD2-1116: LH2a MET376LEU (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-321: LH1 ASP367PROFS (Pathogenic)
SiMPLOD2-1072: LH2a ASP377ASN (SNP)
SiMPLOD3-390: LH3 ASP377ASP (SNP)
SiMPLOD3-391: LH3 ASP377GLU (SNP)
SiMPLOD1-72: LH1 delta368-372 (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-796: LH1 LEU368PRO (SNP)
SiMPLOD2-1011: LH2a PHE378PHE (SNP)
SiMPLOD1-72: LH1 delta368-372 (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-37: LH1 ARG370ARG (Likely benign)
SiMPLOD1-72: LH1 delta368-372 (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-816: LH1 ARG370GLN (SNP)
SiMPLOD1-817: LH1 ARG370LEU (SNP)
SiMPLOD1-920: LH1 ARG370TRP (Uncertain significance)
SiMPLOD2-228: LH2a ARG380CYS (Pathogenic)
SiMPLOD2-1105: LH2a ARG380LEU (SNP)
SiMPLOD2-1141: LH2a ARG380HIS (SNP)
SiMPLOD3-441: LH3 ARG380GLN (SNP)
SiMPLOD1-72: LH1 delta368-372 (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-1020: LH2a GLN381GLN (SNP)
SiMPLOD1-72: LH1 delta368-372 (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-840: LH1 ASP372GLY (SNP)
SiMPLOD3-305: LH3 ASP382HIS (Benign/Likely benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-803: LH1 ARG373SER (SNP)
SiMPLOD1-926: LH1 ARG373CYS (Uncertain significance)
SiMPLOD3-402: LH3 PRO383PRO (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-447: LH3 GLU384LYS (SNP)
SiMPLOD3-537: LH3 GLU384GLU (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-236: LH2a CYS385ARG (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-195: LH1 THR376THR (Likely benign)
SiMPLOD2-1136: LH2a ASP386ASN (SNP)
SiMPLOD3-682: LH3 GLU386LYS (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-789: LH1 TYR377CYS (SNP)
SiMPLOD1-790: LH1 TYR377SER (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-751: LH1 TYR378TYR (SNP)
SiMPLOD3-296: LH3 TYR388END (for biochemistry)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-184: LH1 SER380SER (Likely benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-220: LH1 VAL381MET (Benign/Likely benign)
SiMPLOD2-1086: LH2a VAL391LEU (SNP)
SiMPLOD1-73: LH1 ASP382ALA (Uncertain significance)
SiMPLOD1-74: LH1 ASP382GLY (Uncertain significance)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-277: LH3 ASP392ALA (for biochemistry)
SiMPLOD3-597: LH3 ASP392ASP (SNP)
SiMPLOD1-11: LH1 ALA383ALA (Likely benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-308: LH3 ALA393ALA (benign)
SiMPLOD3-567: LH3 ALA393PRO (SNP)
SiMPLOD3-568: LH3 ALA393SER (SNP)
SiMPLOD3-569: LH3 ALA393THR (SNP)
SiMPLOD1-75: LH1 ASP384ASP (Likely benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-376: LH3 ASP394ASN (SNP)
SiMPLOD3-438: LH3 ASP394ASP (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-858: LH1 VAL385MET (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-356: LH3 VAL396ILE (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-954: LH2a LEU397TRP (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-196: LH1 THR388THR (Benign/Likely benign)
SiMPLOD3-455: LH3 THR398ASN (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-854: LH1 GLU389LYS (SNP)
SiMPLOD2-958: LH2a ASN399ASP (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-59: LH1 ASN391SER (Uncertain significance)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-758: LH1 ASN391ASN (SNP)
SiMPLOD1-759: LH1 ASN391LYS (SNP)
SiMPLOD1-845: LH1 ASN391ASP (SNP)
SiMPLOD3-295: LH3 GLN401END (for biochemistry)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-1079: LH2a THR402THR (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-481: LH3 LEU403LEU (Likely benign)
SiMPLOD1-38: LH1 ARG394ARG (Conflicting interpretations)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-1178: LH1 ARG394TRP (Uncertain significance)
SiMPLOD3-675: LH3 ARG404CYS (SNP)
SiMPLOD3-701: LH3 ARG404HIS (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-405: LH3 ILE407THR (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-1088: LH2a GLU408GLU (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-1155: LH1 GLN399END (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-973: LH2a ASN410LYS (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-60: LH1 ASN402ASN (benign)
SiMPLOD1-61: LH1 ASN402LYS (benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-221: LH1 VAL403VAL (Likely benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-1066: LH2a ILE414VAL (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-625: LH3 ALA415ALA (SNP)
SiMPLOD3-669: LH3 ALA415SER (SNP)
SiMPLOD3-670: LH3 ALA415THR (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-162: LH1 PRO406ALA (Uncertain significance)
SiMPLOD1-163: LH1 PRO406SER (Uncertain significance)
SiMPLOD1-165: LH1 PRO406PRO (Likely benign)
SiMPLOD1-794: LH1 PRO406GLN (SNP)
SiMPLOD1-795: LH1 PRO406LEU (SNP)
SiMPLOD1-922: LH1 PRO406SER (Uncertain significance)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-39: LH1 ARG410GLN (Uncertain significance)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-820: LH1 ARG410GLY (SNP)
SiMPLOD1-821: LH1 ARG410TRP (SNP)
SiMPLOD2-1019: LH2a ARG420PRO (SNP)
SiMPLOD2-1132: LH2a ARG420HIS (SNP)
SiMPLOD2-1143: LH2a ARG420CYS (SNP)
SiMPLOD3-492: LH3 ARG420HIS (SNP)
SiMPLOD3-598: LH3 ARG420CYS (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-352: LH3 HIS421ARG (SNP)
SiMPLOD3-519: LH3 HIS421HIS (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-729: LH1 GLY412ARG (SNP)
SiMPLOD3-471: LH3 GLY422VAL (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-1121: LH2a LEU424PRO (SNP)
SiMPLOD3-424: LH3 LEU424LEU (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-450: LH3 TRP425ARG (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-915: LH1 SER416LEU (SNP)
SiMPLOD1-1181: LH1 SER416PRO (Uncertain significance)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-490: LH3 ASN427SER (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-201: LH1 TRP419ARG (Uncertain significance)
SiMPLOD1-202: LH1 TRP419LEUFS (Uncertain significance)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-412: LH3 GLY430ASP (SNP)
SiMPLOD3-414: LH3 GLY430VAL (SNP)
SiMPLOD3-559: LH3 GLY430GLY (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-750: LH1 ALA421SER (SNP)
SiMPLOD3-544: LH3 ALA431THR (SNP)
SiMPLOD3-646: LH3 ALA431ASP (SNP)
SiMPLOD3-647: LH3 ALA431VAL (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-525: LH3 PRO434PRO (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-578: LH3 ASP435GLU (SNP)
SiMPLOD3-629: LH3 ASP435ASN (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-906: LH1 TYR427TYR (SNP)
SiMPLOD2-1101: LH2a TYR437TYR (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-374: LH3 TYR438TYR (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-693: LH3 ALA439PRO (SNP)
SiMPLOD3-694: LH3 ALA439THR (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-413: LH1 ARG430HIS (SNP)
SiMPLOD1-1188: LH1 ARG430CYS (Uncertain significance)
SiMPLOD2-947: LH2a ARG440GLY (SNP)
SiMPLOD2-948: LH2a ARG440END (SNP)
SiMPLOD3-595: LH3 ARG440HIS (SNP)
SiMPLOD3-596: LH3 ARG440PRO (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-730: LH1 SER431SER (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD3-536: LH3 GLU442LYS (SNP)
SiMPLOD1-76: LH1 ASP433ASP (Likely benign)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-322: LH1 TYR434TYR (SNP)
SiMPLOD1-323: LH1 TYR434END (SNP)
SiMPLOD3-496: LH3 TYR444TYR (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-630: LH1 VAL435MET (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)
SiMPLOD3-562: LH3 ARG450GLN (SNP)
SiMPLOD1-40: LH1 ARG441TRP (Conflicting interpretations)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-41: LH1 ARG442HIS (Uncertain significance)
SiMPLOD1-42: LH1 ARG442LEU (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-762: LH1 ARG442CYS (SNP)
SiMPLOD3-579: LH3 ARG452GLN (Uncertain significance)
SiMPLOD3-580: LH3 ARG452PRO (SNP)
SiMPLOD3-1172: LH3 ARG452END (SNP)
SiMPLOD3-1173: LH3 ARG452GLY (SNP)
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD2-1052: LH2a VAL453GLY (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):

Thank you for using SiMPLOD - Created by Fornerislab@UniPV  - Last curated update: 1970-01-01 00:00:00
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