LH2a ARG659END (LH2a) - ARG680END (LH2b)
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.	SiMPLOD2-230
Isoenzyme   Follow the links to gather information about the LH2a isoenzyme	Lysyl Hydroxylase 2a (human) - UniProt - Full Info
Nucleotide mutation   Follow the links to explore annotated information about the significance of the PLOD2 c.1975C>T mutation	PLOD2 NM_000935.2:c.1975C>T - NCBI RefSeq NCBI SNP: rs780770356 NCBI ClinVar: 374012
Mutation type   Current information about the clinical implications of the mutation	Pathogenic/Likely pathogenic
Disease Phenotype   Annotated information about disease phenotypes associated to this mutation	Cleft of soft palate
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: 119570 Orphanet: ORPHA:99772 ICD-10: Q35.3
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 659, 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	Lv et al., 2018 - DOI - PubMed
Notes from publications   A curated excerpt with information about the mutation from the publications found above	Lv et al. identified the c.2038C>T mutation (p.Arg680End; LH2b numbering) in PLOD2 in two unrelated Chinese patients with Bruck Syndrome. Clinical features of the patient are presented. In NCBI databases, this mutation is annotated referring to the amino acid sequence of PLOD2b, i.e., Arg680 instead of Arg659
Structural Observations   An evaluation of the possible effects/implications of the mutations on the LH2a molecular structure
Related Entries   A list of related LH/PLOD variants found matching the structural position of the mutation currently visualized	SiMPLOD2-990: LH2a ARG659GLN (SNP)
Last Update   An evaluation of the possible effects/implications of the mutations on the LH2a molecular structure	2021-06-23 08:38:51
The three-dimensional visualization is currently based on the homology model of full-length, dimeric human LH2a (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): LH2a homology modelLH2b homology modelLH3 with Fe2+ and 2-OG (PDB 6FXK)