SiMPLOD v. 0.6.2 alpha

LH1 ALA366VAL

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.
SiMPLOD1-10

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.1097C>T mutation
PLOD1 NM_000302.2:c.1097C>T - NCBI RefSeq
NCBI SNP: rs377080927
NCBI ClinVar: 459802

Mutation type
  Current information about the clinical implications of the mutation
Uncertain significance

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

Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic)
SiMPLOD1-320: LH1 delta367-443 (Pathogenic)
SiMPLOD1-872: LH1 ALA366THR (SNP)
SiMPLOD2-1073: LH2a MET376ILE (SNP)
SiMPLOD2-1116: LH2a MET376LEU (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).

Demo Mode. Alternative PDB visualization options disabled

VIEWER INSTRUCTIONS:

Use the buttons on the right-hand side of the viewer to change visualization styles, activate preset selections and save snapshots of current visualizations. Defauls colors and styles are described in Scietti et al., 2018. Mouse over on the structure to display residue identifier

Mouse controls: left = rotate
  on the structural model, click the left mouse button and drag the model to rotate it in the viewer
   right = translate
  on the structural model, click the right mouse button and drag the model to translate it in the viewer
   middle = center/slab
  on the structural model, click the mid mouse button to center the model in the viewer at selected residue. Click the mid mouse button and drag the model to adjust the depth-of-view according to your preferred zoom level
   wheel = zoom
  rotate the mouse wheel to adjust the model zoom level based on the current centered position

LH1 ALA366VAL
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.	SiMPLOD1-10
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.1097C>T mutation	PLOD1 NM_000302.2:c.1097C>T - NCBI RefSeq NCBI SNP: rs377080927 NCBI ClinVar: 459802
Mutation type Current information about the clinical implications of the mutation	Uncertain significance
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 MAY EXIST at the protein level, although no experimental evidence is currently available to support its existence.
Related Entries A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-134: LH1 dupl326-585;TYR455THRFS (Pathogenic) SiMPLOD1-320: LH1 delta367-443 (Pathogenic) SiMPLOD1-872: LH1 ALA366THR (SNP) SiMPLOD2-1073: LH2a MET376ILE (SNP) SiMPLOD2-1116: LH2a MET376LEU (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).
Demo Mode. Alternative PDB visualization options disabled
VIEWER INSTRUCTIONS: Use the buttons on the right-hand side of the viewer to change visualization styles, activate preset selections and save snapshots of current visualizations. Defauls colors and styles are described in Scietti et al., 2018. Mouse over on the structure to display residue identifier Mouse controls: left = rotate on the structural model, click the left mouse button and drag the model to rotate it in the viewer right = translate on the structural model, click the right mouse button and drag the model to translate it in the viewer middle = center/slab on the structural model, click the mid mouse button to center the model in the viewer at selected residue. Click the mid mouse button and drag the model to adjust the depth-of-view according to your preferred zoom level wheel = zoom rotate the mouse wheel to adjust the model zoom level based on the current centered position