SiMPLOD v. 0.6.2 alpha

Search Results - Advanced Search Options

Search results for keyword '12881513':
- annotated PLOD mutations (1)

Show

- LH2b (PLOD2 c.1864G>T) - View
Hide

- registered publications (1)

Show

- 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
Hide

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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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	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