SiMPLOD v. 0.6.2 alpha

LH2b GLY622CYS

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.
SiMPLOD6-240

Isoenzyme
  Follow the links to gather information about the LH2b isoenzyme
Lysyl Hydroxylase 2b (human) - UniProt - Full Info

Nucleotide mutation
  Follow the links to explore annotated information about the significance of the PLOD2 c.1864G>T mutation
PLOD2 NM_182943.2:c.1864G>T - NCBI RefSeq

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

LOVD
  Link to Leiden Open Variation Database (LOVD)
c.1864G>T

Disease Phenotype
  Annotated information about disease phenotypes associated to this mutation
Moderate Osteogenesis Imperfecta - Bruck Syndrome (Type II) 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: 609220 Orphanet: ORPHA:2771 ICD-10: M21.8 MeSH: C537407

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.

References
  Publications (and associated links) describing the mutation
van der Slot et al., 2003 - DOI - PubMed
Hyry et al., 2009 - DOI - PubMed
Puig-Hervas et al., 2012 - DOI - PubMed

Notes from publications
  A curated excerpt with information about the mutation from the publications found above
The Gly622Cys (PLOD2b numbering) mutation was described by Hyry et al. in a Bruck a syndrome patient. The parents of the patient were heterozygous for the mutation. Puig-Hervas et al. also described this mutation in two different Bruck syndrome patients.

Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure
Near LH-LH dimerization interface in substrate mimicry structures

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)
SiMPLOD1-807: LH1 GLY591ALA (SNP)
SiMPLOD1-808: LH1 GLY591ASP (SNP)
SiMPLOD2-241: LH2a GLY601VAL (Pathogenic)

Last Update
  An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure
2021-06-23 08:38:51

The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH2b (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):

LH2b GLY622CYS
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.	SiMPLOD6-240
Isoenzyme Follow the links to gather information about the LH2b isoenzyme	Lysyl Hydroxylase 2b (human) - UniProt - Full Info
Nucleotide mutation Follow the links to explore annotated information about the significance of the PLOD2 c.1864G>T mutation	PLOD2 NM_182943.2:c.1864G>T - NCBI RefSeq
Mutation type Current information about the clinical implications of the mutation	Pathogenic
LOVD Link to Leiden Open Variation Database (LOVD)	c.1864G>T
Disease Phenotype Annotated information about disease phenotypes associated to this mutation	Moderate Osteogenesis Imperfecta - Bruck Syndrome (Type II) 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: 609220 Orphanet: ORPHA:2771 ICD-10: M21.8 MeSH: C537407
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.
References Publications (and associated links) describing the mutation	van der Slot et al., 2003 - DOI - PubMed Hyry et al., 2009 - DOI - PubMed Puig-Hervas et al., 2012 - DOI - PubMed
Notes from publications A curated excerpt with information about the mutation from the publications found above	The Gly622Cys (PLOD2b numbering) mutation was described by Hyry et al. in a Bruck a syndrome patient. The parents of the patient were heterozygous for the mutation. Puig-Hervas et al. also described this mutation in two different Bruck syndrome patients.
Structural Observations An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure	Near LH-LH dimerization interface in substrate mimicry structures
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) SiMPLOD1-807: LH1 GLY591ALA (SNP) SiMPLOD1-808: LH1 GLY591ASP (SNP) SiMPLOD2-241: LH2a GLY601VAL (Pathogenic)
Last Update An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH2b (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):