SiMPLOD v. 0.6.2 alpha

LH2b TYR542THRFS

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.
SiMPLOD6-332

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.1624delT mutation
PLOD2 NM_182943.2:c.1624delT - NCBI RefSeq

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

LOVD
  Link to Leiden Open Variation Database (LOVD)
c.1624delT

Disease Phenotype
  Annotated information about disease phenotypes associated to this mutation
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
Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 542, and may result in misfolding and/or complete absence of the enzyme.

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
Zhou et al., 2014 - DOI - PubMed

Structural Observations
  An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure

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)
SiMPLOD1-209: LH1 TYR511END (Pathogenic)
SiMPLOD1-325: LH1 delta491-550 (Pathogenic)
SiMPLOD3-297: LH3 TYR521END (for biochemistry)
SiMPLOD3-470: LH3 TYR521CYS (SNP)
SiMPLOD3-524: LH3 TYR521TYR (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 TYR542THRFS
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.	SiMPLOD6-332
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.1624delT mutation	PLOD2 NM_182943.2:c.1624delT - NCBI RefSeq
Mutation type Current information about the clinical implications of the mutation	Pathogenic
LOVD Link to Leiden Open Variation Database (LOVD)	c.1624delT
Disease Phenotype Annotated information about disease phenotypes associated to this mutation	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	Warning: this variant incorporates a premature truncation of the aminoacid sequence at residue 542, and may result in misfolding and/or complete absence of the enzyme. 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	Zhou et al., 2014 - DOI - PubMed
Structural Observations An evaluation of the possible effects/implications of the mutations on the LH2b molecular structure
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) SiMPLOD1-209: LH1 TYR511END (Pathogenic) SiMPLOD1-325: LH1 delta491-550 (Pathogenic) SiMPLOD3-297: LH3 TYR521END (for biochemistry) SiMPLOD3-470: LH3 TYR521CYS (SNP) SiMPLOD3-524: LH3 TYR521TYR (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):