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| Search Keyword: |  Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors |
| You can restrict your search results to a specific LH isoenzyme |
| You can restrict your search results to a specific LH isoenzyme |
| You can restrict your search results to a specific disease phenotype |
| Explore mutations supported or not supported by publications registered in PubMed |
- Hyry, M., J. Lantto and J. Myllyharju (2009). "Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2." J Biol Chem 284(45): 30917-30924 - DOI - PubMed - Mutations
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| SiMPLOD ID | Isoenzyme | Mutation | Disease phenotype | CLINVAR | Reference papers | Viewer |
|---|---|---|---|---|---|---|
| SiMPLOD2-229 | Lysyl Hydroxylase 2a/2b (human) | LH2a ARG598HIS (LH2a) - ARG619HIS (LH2b) (PLOD2 c.1793G>A) |
Bruck Syndrome (Type II)
Pathogenic |
7643 | Ha-Vinh et al., 2004Hyry et al., 2009 Puig-Hervas et al., 2012 |
View |
| SiMPLOD2-253 | Lysyl Hydroxylase 2a/2b (human) | LH2a THR608ILE (LH2a) - THR629ILE (LH2b) (PLOD2 c.1823C>T) |
Bruck Syndrome (Type II)
Pathogenic |
7641 | van der Slot et al., 2003 Hyry et al., 2009 Puig-Hervas et al., 2012 Leal et al., 2018 Breslau-Siderius et al., 1998 |
View |
| SiMPLOD6-240 | Lysyl Hydroxylase 2b (human) | LH2b GLY622CYS (PLOD2 c.1864G>T) |
Moderate Osteogenesis Imperfecta - Bruck Syndrome (Type II)
Pathogenic |
NA | van der Slot et al., 2003 Hyry et al., 2009 Puig-Hervas et al., 2012 |
View |
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