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Free keyword. Search is performed through SiMPLOD id, mutations, structural annotations, paper abstracts, titles and authors
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You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific LH isoenzyme
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Explore mutations supported or not supported by publications registered in PubMed

Search results for keyword '12881513':
- annotated PLOD mutations (1)
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- LH2b (PLOD2 c.1864G>T) - View
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- registered publications (1)
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- van der Slot, A. J., A. M. Zuurmond, A. F. Bardoel, C. Wijmenga, H. E. Pruijs, D. O. Sillence, J. Brinckmann, D. J. Abraham, C. M. Black, N. Verzijl, J. DeGroot, R. Hanemaaijer, J. M. TeKoppele, T. W. Huizinga and R. A. Bank (2003). "Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis." J Biol Chem 278(42): 40967-40972 - DOI - PubMed - Mutations
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The table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED
with records containing the keyword "12881513".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD2-241 Lysyl Hydroxylase 2a/2b (human) LH2a GLY601VAL (LH2a) - GLY622VAL (LH2b)
(PLOD2 c.1802G>T)		 Bruck Syndrome (Type II)
Pathogenic		 7642 van der Slot et al., 2003 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
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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
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