SiMPLOD v. 0.6.2 alpha

LH1 LEU085PRO

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.
SiMPLOD1-142

Isoenzyme
  Follow the links to gather information about the LH1 isoenzyme
Lysyl Hydroxylase 1 (human) - UniProt - Full Info

Nucleotide mutation
  Follow the links to explore annotated information about the significance of the PLOD1 c.254T>C mutation
PLOD1 NM_000302.2:c.254T>C - NCBI RefSeq

Mutation type
  Current information about the clinical implications of the mutation
Likely benign

LOVD
  Link to Leiden Open Variation Database (LOVD)
c.254T>C

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: 225320 Orphanet: ORPHA:230851 ICD-10: Q79.6 MeSH: C536198

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
Rohrbach et al., 2011 - DOI - PubMed

Notes from publications
  A curated excerpt with information about the mutation from the publications found above
Rohrbach et al. reported twelve cases of kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Patient 2 is homozygous for Leu85Pro. Phenotypic traits and clinical features are described.

Related Entries
  A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized
SiMPLOD2-1075: LH2a MET097ILE (SNP)

Last Update
  An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure
2021-06-23 08:38:51

The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH1 (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):

LH1 LEU085PRO
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.	SiMPLOD1-142
Isoenzyme Follow the links to gather information about the LH1 isoenzyme	Lysyl Hydroxylase 1 (human) - UniProt - Full Info
Nucleotide mutation Follow the links to explore annotated information about the significance of the PLOD1 c.254T>C mutation	PLOD1 NM_000302.2:c.254T>C - NCBI RefSeq
Mutation type Current information about the clinical implications of the mutation	Likely benign
LOVD Link to Leiden Open Variation Database (LOVD)	c.254T>C
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: 225320 Orphanet: ORPHA:230851 ICD-10: Q79.6 MeSH: C536198
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	Rohrbach et al., 2011 - DOI - PubMed
Notes from publications A curated excerpt with information about the mutation from the publications found above	Rohrbach et al. reported twelve cases of kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). Patient 2 is homozygous for Leu85Pro. Phenotypic traits and clinical features are described.
Related Entries A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD2-1075: LH2a MET097ILE (SNP)
Last Update An evaluation of the possible effects/implications of the mutations on the LH1 molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH1 (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):