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): LH1 homology modelLH3 with Fe2+ and 2-OG (PDB 6FXK)