SiMPLOD v. 0.6.2 alpha

LH1 ILE599FS

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.
SiMPLOD1-337

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.1795delA mutation
PLOD1 NM_000302.2:c.1795delA - NCBI RefSeq
NCBI ClinVar: 561086

Mutation type
  Current information about the clinical implications of the mutation
Pathogenic

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
Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 599, and may result in misfolding and/or complete absence of the enzyme.

This variant MAY EXIST at the protein level, although no experimental evidence is currently available to support its existence.

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
SiMPLOD1-327: LH1 delta586-634 (Pathogenic)
SiMPLOD3-600: LH3 VAL610MET (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 ILE599FS
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.	SiMPLOD1-337
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.1795delA mutation	PLOD1 NM_000302.2:c.1795delA - NCBI RefSeq NCBI ClinVar: 561086
Mutation type Current information about the clinical implications of the mutation	Pathogenic
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	Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 599, and may result in misfolding and/or complete absence of the enzyme. This variant MAY EXIST at the protein level, although no experimental evidence is currently available to support its existence.
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	SiMPLOD1-327: LH1 delta586-634 (Pathogenic) SiMPLOD3-600: LH3 VAL610MET (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):