SiMPLOD v. 0.6.2 alpha

LH2b ASP585VAL

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.
SiMPLOD6-235

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.1754A>T mutation
PLOD2 NM_182943.2:c.1754A>T - NCBI RefSeq

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

Disease Phenotype
  Annotated information about disease phenotypes associated to this mutation
Skeletal Dysplasia Kozlowski-Reardon - 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
Leal et al., 2018 - DOI - PubMed

Notes from publications
  A curated excerpt with information about the mutation from the publications found above
Leal et al. described of two sibs with a kyphomelic dysplasia-like phenotype who were stillborn. Both had compound heterozygous variants in PLOD2 (Asp585Val and Ser166End). The missense variant Asp585Val has not been described in the normal population, nor among healthy controls. The variant was inherited from the mother. Clinical and familiar features are described.

Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure
Near LH-LH dimerization interface, abolishes H-bond with conserved residues

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)
SiMPLOD1-326: LH1 delta551-585 (Pathogenic)
SiMPLOD3-548: LH3 ASP565ASP (SNP)

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 ASP585VAL
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.	SiMPLOD6-235
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.1754A>T mutation	PLOD2 NM_182943.2:c.1754A>T - NCBI RefSeq
Mutation type Current information about the clinical implications of the mutation	Pathogenic
Disease Phenotype Annotated information about disease phenotypes associated to this mutation	Skeletal Dysplasia Kozlowski-Reardon - 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	Leal et al., 2018 - DOI - PubMed
Notes from publications A curated excerpt with information about the mutation from the publications found above	Leal et al. described of two sibs with a kyphomelic dysplasia-like phenotype who were stillborn. Both had compound heterozygous variants in PLOD2 (Asp585Val and Ser166End). The missense variant Asp585Val has not been described in the normal population, nor among healthy controls. The variant was inherited from the mother. Clinical and familiar features are described.
Structural Observations An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure	Near LH-LH dimerization interface, abolishes H-bond with conserved residues
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) SiMPLOD1-326: LH1 delta551-585 (Pathogenic) SiMPLOD3-548: LH3 ASP565ASP (SNP)
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):