SiMPLOD v. 0.6.2 alpha

LH2b TRP588CYS

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.
SiMPLOD6-255

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.1764G>T mutation
PLOD2 NM_182943.2:c.1764G>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
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 is EXTREMELY UNLIKELY to be compatible with a folded LH enzyme. The representation shown in the structure viewer is therefore for mere display purposes and does not refer to an actual predicted existing protein product.

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 a young patient homozygous for the variant Trp588Cys. This variant has not been reported in normal individuals. Despite in silico programs gave conflicting pathogenicity predictions, the mutation involves a surface residue which is turned into a free cysteine. Thus, patogenicity may derive from protein misfolding/aggregation.

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)
SiMPLOD1-205: LH1 TRP557SER (Uncertain significance)
SiMPLOD1-326: LH1 delta551-585 (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 TRP588CYS
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.	SiMPLOD6-255
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.1764G>T mutation	PLOD2 NM_182943.2:c.1764G>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	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 is EXTREMELY UNLIKELY to be compatible with a folded LH enzyme. The representation shown in the structure viewer is therefore for mere display purposes and does not refer to an actual predicted existing protein product.
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 a young patient homozygous for the variant Trp588Cys. This variant has not been reported in normal individuals. Despite in silico programs gave conflicting pathogenicity predictions, the mutation involves a surface residue which is turned into a free cysteine. Thus, patogenicity may derive from protein misfolding/aggregation.
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) SiMPLOD1-205: LH1 TRP557SER (Uncertain significance) SiMPLOD1-326: LH1 delta551-585 (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):