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LH1 dupl326-585;TYR455THRFS
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.	SiMPLOD1-134
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+975_1755+?dup+c.1362delC mutation	PLOD1 NM_000302.2:c.975+975_1755+?dup+c.1362delC - NCBI RefSeq
Mutation type   Current information about the clinical implications of the mutation	Pathogenic
LOVD   Link to Leiden Open Variation Database (LOVD)	c.975%2B975_1755%2B%3Fdup
Disease Phenotype   Annotated information about disease phenotypes associated to this mutation	Ehlers-Danlos syndrome, cardiovascular phenotype Link1
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: 225320 Orphanet: ORPHA:230851 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	Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 455, and may result in misfolding and/or complete absence of the enzyme. 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	Giunta et al., 2005 - DOI - PubMed
Notes from publications   A curated excerpt with information about the mutation from the publications found above	Giunta et al. studied 9 patients from 12 unrelated families identifying novel mutations causing Ehlers-Danlos syndrome (EDS VIA). Patients under investigation showed a duplication annotated as (c.1067_1846dup) + (c.1067_1846dup), corresponding to c.975+975_1755+?dup. One of these patients also showed the homozygous deletion of a C at position c.1253 (c.1362delC) resulting in a premature termination codon after Ile454.
Structural Observations   An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-113: LH1 HIS325HIS (Conflicting interpretations) SiMPLOD1-319: LH1 delta282-325 (Pathogenic) SiMPLOD3-426: LH3 ASN335ASN (SNP) SiMPLOD1-893: LH1 GLU326GLU (SNP) SiMPLOD1-894: LH1 GLU326ASP (SNP) SiMPLOD1-87: LH1 GLN327END (Pathogenic) SiMPLOD3-535: LH3 VAL337VAL (SNP) SiMPLOD1-901: LH1 HIS329TYR (SNP) SiMPLOD2-951: LH2a HIS339HIS (SNP) SiMPLOD3-431: LH3 GLU340GLN (SNP) SiMPLOD2-1031: LH2a LYS344LYS (SNP) SiMPLOD2-1032: LH2a LYS344ASN (SNP) SiMPLOD2-1119: LH2a LYS344THR (SNP) SiMPLOD3-530: LH3 ALA344ALA (SNP) SiMPLOD3-664: LH3 ALA344PRO (SNP) SiMPLOD3-665: LH3 ALA344THR (SNP) SiMPLOD3-641: LH3 SER346CYS (SNP) SiMPLOD3-642: LH3 SER346PHE (SNP) SiMPLOD2-234: LH2a ASP348TYR (Uncertain significance) SiMPLOD2-963: LH2a ASP348GLY (SNP) SiMPLOD3-343: LH3 PRO348ARG (SNP) SiMPLOD3-344: LH3 PRO348LEU (SNP) SiMPLOD3-576: LH3 PRO348PRO (SNP) SiMPLOD1-1193: LH1 GLN339END (Pathogenic) SiMPLOD3-1163: LH3 GLN349END (SNP) SiMPLOD1-925: LH1 GLY341GLY (Conflicting interpretations) SiMPLOD1-183: LH1 SER342SER (Uncertain significance) SiMPLOD1-879: LH1 TYR344CYS (SNP) SiMPLOD1-880: LH1 TYR344PHE (SNP) SiMPLOD1-88: LH1 GLN345END (Pathogenic) SiMPLOD2-1084: LH2a ILE357VAL (SNP) SiMPLOD2-1001: LH2a LYS358GLU (SNP) SiMPLOD3-485: LH3 LEU359LEU (SNP) SiMPLOD1-744: LH1 VAL350ALA (SNP) SiMPLOD3-632: LH3 VAL360LEU (SNP) SiMPLOD3-633: LH3 VAL360MET (SNP) SiMPLOD3-609: LH3 PRO362LEU (SNP) SiMPLOD3-689: LH3 PRO362PRO (SNP) SiMPLOD2-1023: LH2a GLU363GLU (SNP) SiMPLOD3-575: LH3 GLU363ASP (SNP) SiMPLOD1-36: LH1 ARG355TRP (Uncertain significance) SiMPLOD1-865: LH1 ARG355GLN (SNP) SiMPLOD3-637: LH3 ALA365THR (SNP) SiMPLOD1-761: LH1 ALA357VAL (SNP) SiMPLOD1-850: LH1 ALA357ALA (SNP) SiMPLOD3-397: LH3 SER367SER (SNP) SiMPLOD3-507: LH3 PRO368SER (SNP) SiMPLOD2-1008: LH2a ALA369VAL (SNP) SiMPLOD2-1049: LH2a ALA369ALA (SNP) SiMPLOD3-628: LH3 GLY369GLY (SNP) SiMPLOD2-238: LH2a GLU370LYS (Likely benign) SiMPLOD1-9: LH1 ALA361ALA (Likely benign) SiMPLOD2-1140: LH2a MET374VAL (SNP) SiMPLOD3-503: LH3 MET374LEU (SNP) SiMPLOD3-504: LH3 MET374VAL (SNP) SiMPLOD1-921: LH1 GLY365GLY (Uncertain significance) SiMPLOD2-1045: LH2a GLY375GLY (SNP) SiMPLOD3-551: LH3 ALA375ASP (SNP) SiMPLOD3-552: LH3 ALA375VAL (SNP) SiMPLOD1-10: LH1 ALA366VAL (Uncertain significance) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-872: LH1 ALA366THR (SNP) SiMPLOD2-1073: LH2a MET376ILE (SNP) SiMPLOD2-1116: LH2a MET376LEU (SNP) SiMPLOD1-320: LH1 delta367-443 (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) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-796: LH1 LEU368PRO (SNP) SiMPLOD2-1011: LH2a PHE378PHE (SNP) SiMPLOD1-72: LH1 delta368-372 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-37: LH1 ARG370ARG (Likely benign) SiMPLOD1-72: LH1 delta368-372 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (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) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1020: LH2a GLN381GLN (SNP) SiMPLOD1-72: LH1 delta368-372 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-840: LH1 ASP372GLY (SNP) SiMPLOD3-305: LH3 ASP382HIS (Benign/Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-803: LH1 ARG373SER (SNP) SiMPLOD1-926: LH1 ARG373CYS (Uncertain significance) SiMPLOD3-402: LH3 PRO383PRO (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-447: LH3 GLU384LYS (SNP) SiMPLOD3-537: LH3 GLU384GLU (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-236: LH2a CYS385ARG (Pathogenic) SiMPLOD1-195: LH1 THR376THR (Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1136: LH2a ASP386ASN (SNP) SiMPLOD3-682: LH3 GLU386LYS (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-789: LH1 TYR377CYS (SNP) SiMPLOD1-790: LH1 TYR377SER (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-751: LH1 TYR378TYR (SNP) SiMPLOD3-296: LH3 TYR388END (for biochemistry) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-184: LH1 SER380SER (Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-220: LH1 VAL381MET (Benign/Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1086: LH2a VAL391LEU (SNP) SiMPLOD1-73: LH1 ASP382ALA (Uncertain significance) SiMPLOD1-74: LH1 ASP382GLY (Uncertain significance) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-277: LH3 ASP392ALA (for biochemistry) SiMPLOD3-597: LH3 ASP392ASP (SNP) SiMPLOD1-11: LH1 ALA383ALA (Likely benign) SiMPLOD1-320: LH1 delta367-443 (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) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-376: LH3 ASP394ASN (SNP) SiMPLOD3-438: LH3 ASP394ASP (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-858: LH1 VAL385MET (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-356: LH3 VAL396ILE (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-954: LH2a LEU397TRP (SNP) SiMPLOD1-196: LH1 THR388THR (Benign/Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-455: LH3 THR398ASN (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-854: LH1 GLU389LYS (SNP) SiMPLOD2-958: LH2a ASN399ASP (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-59: LH1 ASN391SER (Uncertain significance) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-758: LH1 ASN391ASN (SNP) SiMPLOD1-759: LH1 ASN391LYS (SNP) SiMPLOD1-845: LH1 ASN391ASP (SNP) SiMPLOD3-295: LH3 GLN401END (for biochemistry) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1079: LH2a THR402THR (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-481: LH3 LEU403LEU (Likely benign) SiMPLOD1-38: LH1 ARG394ARG (Conflicting interpretations) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-1178: LH1 ARG394TRP (Uncertain significance) SiMPLOD3-675: LH3 ARG404CYS (SNP) SiMPLOD3-701: LH3 ARG404HIS (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-405: LH3 ILE407THR (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1088: LH2a GLU408GLU (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-1155: LH1 GLN399END (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-973: LH2a ASN410LYS (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-60: LH1 ASN402ASN (benign) SiMPLOD1-61: LH1 ASN402LYS (benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-221: LH1 VAL403VAL (Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1066: LH2a ILE414VAL (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-625: LH3 ALA415ALA (SNP) SiMPLOD3-669: LH3 ALA415SER (SNP) SiMPLOD3-670: LH3 ALA415THR (SNP) SiMPLOD1-162: LH1 PRO406ALA (Uncertain significance) SiMPLOD1-163: LH1 PRO406SER (Uncertain significance) SiMPLOD1-165: LH1 PRO406PRO (Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-794: LH1 PRO406GLN (SNP) SiMPLOD1-795: LH1 PRO406LEU (SNP) SiMPLOD1-922: LH1 PRO406SER (Uncertain significance) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-39: LH1 ARG410GLN (Uncertain significance) SiMPLOD1-320: LH1 delta367-443 (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) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-352: LH3 HIS421ARG (SNP) SiMPLOD3-519: LH3 HIS421HIS (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-729: LH1 GLY412ARG (SNP) SiMPLOD3-471: LH3 GLY422VAL (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1121: LH2a LEU424PRO (SNP) SiMPLOD3-424: LH3 LEU424LEU (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-450: LH3 TRP425ARG (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-915: LH1 SER416LEU (SNP) SiMPLOD1-1181: LH1 SER416PRO (Uncertain significance) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-490: LH3 ASN427SER (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-201: LH1 TRP419ARG (Uncertain significance) SiMPLOD1-202: LH1 TRP419LEUFS (Uncertain significance) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-412: LH3 GLY430ASP (SNP) SiMPLOD3-414: LH3 GLY430VAL (SNP) SiMPLOD3-559: LH3 GLY430GLY (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-750: LH1 ALA421SER (SNP) SiMPLOD3-544: LH3 ALA431THR (SNP) SiMPLOD3-646: LH3 ALA431ASP (SNP) SiMPLOD3-647: LH3 ALA431VAL (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-525: LH3 PRO434PRO (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-578: LH3 ASP435GLU (SNP) SiMPLOD3-629: LH3 ASP435ASN (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-906: LH1 TYR427TYR (SNP) SiMPLOD2-1101: LH2a TYR437TYR (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-374: LH3 TYR438TYR (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-693: LH3 ALA439PRO (SNP) SiMPLOD3-694: LH3 ALA439THR (SNP) SiMPLOD1-320: LH1 delta367-443 (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) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-730: LH1 SER431SER (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-536: LH3 GLU442LYS (SNP) SiMPLOD1-76: LH1 ASP433ASP (Likely benign) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-322: LH1 TYR434TYR (SNP) SiMPLOD1-323: LH1 TYR434END (SNP) SiMPLOD3-496: LH3 TYR444TYR (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-630: LH1 VAL435MET (SNP) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD3-562: LH3 ARG450GLN (SNP) SiMPLOD1-40: LH1 ARG441TRP (Conflicting interpretations) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-41: LH1 ARG442HIS (Uncertain significance) SiMPLOD1-42: LH1 ARG442LEU (SNP) SiMPLOD1-320: LH1 delta367-443 (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) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD2-1052: LH2a VAL453GLY (SNP) SiMPLOD2-239: LH2a GLY454VAL (Likely pathogenic) SiMPLOD1-222: LH1 VAL445ALA (Uncertain significance) SiMPLOD1-1202: LH1 VAL445GLY (Uncertain significance) SiMPLOD1-203: LH1 TRP446GLY (Conflicting interpretations) SiMPLOD1-1157: LH1 VAL445_TRP446INSEND (SNP) SiMPLOD2-971: LH2a ASN457ASP (SNP) SiMPLOD1-1198: LH1 TYR450CYS (Uncertain significance) SiMPLOD2-934: LH2a TYR460TYR (SNP) SiMPLOD3-460: LH3 TYR460TYR (SNP) SiMPLOD3-461: LH3 TYR460END (SNP) SiMPLOD1-324: LH1 TYR455THRFS (Pathogenic) SiMPLOD1-747: LH1 ILE454VAL (SNP) SiMPLOD3-278: LH3 ALA464ILE (for biochemistry) SiMPLOD3-640: LH3 ALA464THR (SNP) SiMPLOD1-324: LH1 TYR455THRFS (Pathogenic) SiMPLOD1-852: LH1 TYR455CYS (SNP) SiMPLOD1-853: LH1 TYR455SER (SNP) SiMPLOD1-885: LH1 TYR455TYR (SNP) SiMPLOD3-607: LH3 TYR465CYS (SNP) SiMPLOD3-608: LH3 TYR465PHE (SNP) SiMPLOD1-760: LH1 LEU456VAL (SNP) SiMPLOD3-301: LH3 ARG468GLY (benign) SiMPLOD3-302: LH3 ARG468TRP (SNP) SiMPLOD3-429: LH3 ARG468GLN (SNP) SiMPLOD2-996: LH2a LEU472PHE (SNP) SiMPLOD1-43: LH1 ARG463GLN (Uncertain significance) SiMPLOD1-44: LH1 ARG463TRP (Uncertain significance) SiMPLOD2-1041: LH2a ARG473GLN (SNP) SiMPLOD2-1042: LH2a ARG473LEU (SNP) SiMPLOD2-1160: LH2a ARG473GLY (SNP) SiMPLOD2-1161: LH2a ARG473END (Uncertain significance) SiMPLOD3-389: LH3 ARG473TRP (SNP) SiMPLOD3-345: LH3 GLN478GLN (SNP) SiMPLOD3-1166: LH3 GLN478END (SNP) SiMPLOD3-1167: LH3 GLN478GLU (SNP) SiMPLOD1-849: LH1 LEU471LEU (SNP) SiMPLOD2-981: LH2a VAL483ILE (SNP) SiMPLOD3-553: LH3 SER483ALA (SNP) SiMPLOD3-554: LH3 SER483PRO (SNP) SiMPLOD3-671: LH3 SER483LEU (SNP) SiMPLOD3-698: LH3 SER483SER (SNP) SiMPLOD1-115: LH1 HIS474SER (for biochemistry) SiMPLOD1-785: LH1 HIS474TYR (SNP) SiMPLOD2-1106: LH2a ARG484HIS (SNP) SiMPLOD2-1107: LH2a ARG484LEU (SNP) SiMPLOD2-1108: LH2a ARG484PRO (SNP) SiMPLOD3-695: LH3 GLY484GLY (SNP) SiMPLOD1-153: LH1 LYS476ARG (Uncertain significance) SiMPLOD1-154: LH1 LYS476LYS (Conflicting interpretations) SiMPLOD2-247: LH2a LYS486ARG (Uncertain significance) SiMPLOD1-869: LH1 PRO479PRO (SNP) SiMPLOD3-489: LH3 PRO489PRO (SNP) SiMPLOD3-663: LH3 PRO489LEU (Uncertain significance) SiMPLOD2-1063: LH2a MET491THR (SNP) SiMPLOD3-586: LH3 ALA492VAL (SNP) SiMPLOD3-709: LH3 ALA492ALA (SNP) SiMPLOD2-938: LH2a LEU493HIS (SNP) SiMPLOD2-1093: LH2a LEU493PHE (SNP) SiMPLOD2-1094: LH2a LEU493VAL (SNP) SiMPLOD3-631: LH3 CYS494ARG (SNP) SiMPLOD3-419: LH3 LYS495LYS (SNP) SiMPLOD1-720: LH1 ASN486TYR (SNP) SiMPLOD1-135: LH1 ILE487ILE (Likely benign) SiMPLOD1-735: LH1 ARG488GLN (SNP) SiMPLOD1-746: LH1 ARG488TRP (SNP) SiMPLOD3-363: LH3 ARG498GLN (SNP) SiMPLOD3-433: LH3 ARG498END (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-77: LH1 ASP491ALA (for biochemistry) SiMPLOD1-78: LH1 ASP491ASP (Likely benign) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD6-331: LH2b VAL523CYSFS (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-601: LH3 ILE502ILE (SNP) SiMPLOD6-331: LH2b VAL523CYSFS (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-967: LH2a PHE503PHE (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-904: LH1 MET494VAL (SNP) SiMPLOD1-1179: LH1 MET494ILE (Uncertain significance) SiMPLOD3-705: LH3 LEU504LEU (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-45: LH1 ARG499TRP (Conflicting interpretations) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-502: LH3 GLN509ARG (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-307: LH3 HIS510TYR (benign) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-964: LH2a GLU511LYS (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-116: LH1 HIS504ARG (Uncertain significance) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-511: LH3 ARG514TRP (SNP) SiMPLOD3-603: LH3 ARG514GLN (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-1013: LH2a LEU515LEU (SNP) SiMPLOD3-118: LH3 LEU515PHE (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-1076: LH2a SER517CYS (SNP) SiMPLOD3-573: LH3 ALA517ALA (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-1102: LH2a THR518THR (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-185: LH1 SER510SER (Likely benign) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-294: LH3 ARG520END (for biochemistry) SiMPLOD1-209: LH1 TYR511END (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-297: LH3 TYR521END (for biochemistry) SiMPLOD3-470: LH3 TYR521CYS (SNP) SiMPLOD3-524: LH3 TYR521TYR (SNP) SiMPLOD6-332: LH2b TYR542THRFS (Pathogenic) SiMPLOD1-46: LH1 ARG512CYS (Conflicting interpretations) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-457: LH3 ASP522ASN (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-401: LH3 THR523THR (SNP) SiMPLOD3-602: LH3 THR523MET (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-1047: LH2a SER524SER (SNP) SiMPLOD1-117: LH1 HIS515TYR (Uncertain significance) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-902: LH1 HIS515HIS (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-745: LH1 LEU516LEU (SNP) SiMPLOD2-256: LH2a TYR526HIS (Uncertain significance) SiMPLOD1-119: LH1 HIS517SER (for biochemistry) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-774: LH1 HIS517ARG (SNP) SiMPLOD1-775: LH1 HIS517PRO (SNP) SiMPLOD2-232: LH2a ASN527ASN (Likely benign) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-770: LH1 ASN518ASN (SNP) SiMPLOD1-771: LH1 ASN518LYS (SNP) SiMPLOD2-946: LH2a ASN528SER (SNP) SiMPLOD2-1113: LH2a ASN528ASN (SNP) SiMPLOD3-446: LH3 PRO528PRO (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-802: LH1 ASP519ASN (SNP) SiMPLOD3-406: LH3 ASP529ASN (SNP) SiMPLOD3-407: LH3 ASP529TYR (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-828: LH1 LEU520LEU (SNP) SiMPLOD1-204: LH1 TRP521END (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-788: LH1 GLU522GLU (SNP) SiMPLOD2-237: LH2a GLN532ARG (Uncertain significance) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-399: LH3 PHE534PHE (SNP) SiMPLOD3-400: LH3 PHE534LEU (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-776: LH1 ASN526ASN (SNP) SiMPLOD1-777: LH1 ASN526LYS (SNP) SiMPLOD1-166: LH1 PRO527PRO (Likely benign) SiMPLOD1-167: LH1 PRO527PRO (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-591: LH3 PRO537PRO (SNP) SiMPLOD1-96: LH1 GLU528LYS (Likely benign) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-346: LH3 VAL538ILE (SNP) SiMPLOD3-648: LH3 VAL538VAL (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD6-254: LH2b TRP561END (Likely pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-97: LH1 GLU532DEL (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-743: LH1 ILE535ILE (SNP) SiMPLOD1-846: LH1 ILE535LEU (SNP) SiMPLOD1-847: LH1 ILE535VAL (SNP) SiMPLOD1-120: LH1 HIS536HIS (Likely benign) SiMPLOD1-121: LH1 HIS536SER (for biochemistry) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-304: LH3 HIS546ASN (Uncertain significance) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-1051: LH2a ARG547HIS (SNP) SiMPLOD2-1062: LH2a ARG547ARG (SNP) SiMPLOD3-527: LH3 GLU547GLN (SNP) SiMPLOD3-528: LH3 GLU547LYS (SNP) SiMPLOD1-62: LH1 ASN538GLN (for biochemistry) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-755: LH1 TYR539HIS (SNP) SiMPLOD3-444: LH3 TYR549TYR (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-403: LH3 ARG551GLN (SNP) SiMPLOD3-404: LH3 ARG551PRO (SNP) SiMPLOD3-668: LH3 ARG551TRP (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-757: LH1 LEU543LEU (SNP) SiMPLOD1-12: LH1 ALA544ALA (Benign/Likely benign) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-106: LH1 GLY545ARG (Uncertain significance) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD2-245: LH2a ILE557VAL (Uncertain significance) SiMPLOD3-381: LH3 ILE558ILE (SNP) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-1152: LH3 VAL559MET (Uncertain significance) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-1158: LH1 GLU549END (SNP) SiMPLOD3-1153: LH3 GLU560GLN (Likely benign) SiMPLOD1-197: LH1 THR550THR (Uncertain significance) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD1-1191: LH1 THR550MET (Uncertain significance) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD2-1055: LH2a PRO561ALA (SNP) SiMPLOD2-1056: LH2a PRO561THR (SNP) SiMPLOD3-589: LH3 PRO562SER (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-351: LH3 CYS563PHE (SNP) SiMPLOD1-168: LH1 PRO553LEU (Uncertain significance) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-728: LH1 PRO553PRO (SNP) SiMPLOD3-357: LH3 PRO564PRO (SNP) SiMPLOD3-454: LH3 PRO564SER (SNP) SiMPLOD3-497: LH3 PRO564LEU (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-548: LH3 ASP565ASP (SNP) SiMPLOD6-235: LH2b ASP585VAL (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-411: LH3 VAL566MET (SNP) SiMPLOD1-210: LH1 TYR556CYS (Uncertain significance) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-205: LH1 TRP557SER (Uncertain significance) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD6-255: LH2b TRP588CYS (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-824: LH1 PHE558LEU (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-815: LH1 PRO559SER (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-1177: LH1 ILE560VAL (Uncertain significance) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-198: LH1 THR562MET (Uncertain significance) SiMPLOD1-199: LH1 THR562THR (Uncertain significance) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD2-1074: LH2a SER572SER (SNP) SiMPLOD1-98: LH1 GLU563GLU (Uncertain significance) SiMPLOD1-99: LH1 GLU563ASP (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-570: LH3 GLU574GLU (SNP) SiMPLOD3-571: LH3 GLU574ASP (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD2-994: LH2a LYS574LYS (SNP) SiMPLOD2-1130: LH2a LYS574ASN (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-841: LH1 CYS566PHE (SNP) SiMPLOD1-842: LH1 CYS566TYR (SNP) SiMPLOD2-1080: LH2a CYS576TRP (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-146: LH1 LEU569GLN (Uncertain significance) SiMPLOD1-147: LH1 LEU569LEU (Likely benign) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD2-966: LH2a LEU579LEU (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-866: LH1 VAL570MET (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-655: LH3 HIS586ASP (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-533: LH3 TYR587TYR (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-1170: LH3 TRP590END (SNP) SiMPLOD6-333: LH2b TRP610ARG (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD2-977: LH2a GLY591ARG (SNP) SiMPLOD3-661: LH3 GLY592GLY (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-541: LH3 GLY593ARG (SNP) SiMPLOD3-542: LH3 GLY593SER (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-515: LH3 ARG594GLN (SNP) SiMPLOD3-516: LH3 ARG594LEU (SNP) SiMPLOD3-588: LH3 ARG594TRP (SNP) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD1-326: LH1 delta551-585 (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)