SiMPLOD v. 0.6.2 alpha

LH3 GLY224ARG

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.
SiMPLOD3-274

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.670G>A mutation
PLOD3 NM_001084.4:c.670G>A - NCBI RefSeq

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

LOVD
  Link to Leiden Open Variation Database (LOVD)
c.670G>A

Disease Phenotype
  Annotated information about disease phenotypes associated to this mutation
Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta) 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: 612394 Orphanet: ORPHA:300284 ICD-10: Q78.0 MeSH: C567320

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
SiMPLOD3-275: LH3 GLY224ARG (SNP)

Last Update
  An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure
2021-06-23 08:38:51

The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH3 (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):

LH3 GLY224ARG
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.	SiMPLOD3-274
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.670G>A mutation	PLOD3 NM_001084.4:c.670G>A - NCBI RefSeq
Mutation type Current information about the clinical implications of the mutation	Uncertain significance
LOVD Link to Leiden Open Variation Database (LOVD)	c.670G>A
Disease Phenotype Annotated information about disease phenotypes associated to this mutation	Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta) 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: 612394 Orphanet: ORPHA:300284 ICD-10: Q78.0 MeSH: C567320
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	SiMPLOD3-275: LH3 GLY224ARG (SNP)
Last Update An evaluation of the possible effects/implications of the mutations on the LH3 molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH3 (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):