SiMPLOD v. 0.6.2 alpha

LH3 THR123PRO

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.
SiMPLOD3-1754

Isoenzyme
  Follow the links to gather information about the LH3 isoenzyme
Lysyl Hydroxylase 3 (human) - UniProt - Full Info

Nucleotide mutation
  Follow the links to explore annotated information about the significance of the PLOD3 c.367A>C mutation
PLOD3 NM_001084.4:c.367A>C - NCBI RefSeq
NCBI SNP: rs771170655

Mutation type
  Current information about the clinical implications of the mutation
SNP without clinical evidence

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.

Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure

Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD1-20: LH1 ARG111GLYFS (Pathogenic)
SiMPLOD1-912: LH1 ARG111GLN (SNP)
SiMPLOD1-1242: LH1 ARG111TRP (Uncertain significance)
SiMPLOD1-1298: LH1 ARG111ARG (Likely benign)
SiMPLOD1-2850: LH1 ARG111END (SNP)
SiMPLOD1-2869: LH1 ARG111TRP (SNP)
SiMPLOD2-1903: LH2a GLU123LYS (SNP)
SiMPLOD2-2366: LH2a GLU123GLY (SNP)
SiMPLOD3-378: LH3 THR123ALA (SNP)

Last Update
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
1970-01-01 01:00:00

The three-dimensional visualization is currently based on the dimeric structure of LH3 in complex with Fe²⁺, 2-OG, Mn²⁺ and UDP-Galactose (from PDB id 6FXR).

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

LH3 THR123PRO
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.	SiMPLOD3-1754
Isoenzyme Follow the links to gather information about the LH3 isoenzyme	Lysyl Hydroxylase 3 (human) - UniProt - Full Info
Nucleotide mutation Follow the links to explore annotated information about the significance of the PLOD3 c.367A>C mutation	PLOD3 NM_001084.4:c.367A>C - NCBI RefSeq NCBI SNP: rs771170655
Mutation type Current information about the clinical implications of the mutation	SNP without clinical evidence
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.
Structural Observations An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
Related Entries A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD1-20: LH1 ARG111GLYFS (Pathogenic) SiMPLOD1-912: LH1 ARG111GLN (SNP) SiMPLOD1-1242: LH1 ARG111TRP (Uncertain significance) SiMPLOD1-1298: LH1 ARG111ARG (Likely benign) SiMPLOD1-2850: LH1 ARG111END (SNP) SiMPLOD1-2869: LH1 ARG111TRP (SNP) SiMPLOD2-1903: LH2a GLU123LYS (SNP) SiMPLOD2-2366: LH2a GLU123GLY (SNP) SiMPLOD3-378: LH3 THR123ALA (SNP)
Last Update An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure	1970-01-01 01:00:00
The three-dimensional visualization is currently based on the dimeric structure of LH3 in complex with Fe²⁺, 2-OG, Mn²⁺ and UDP-Galactose (from PDB id 6FXR).
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