SiMPLOD v. 0.6.2 alpha

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Search results for keyword '29178448':
- annotated PLOD mutations (1)

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- LH2b (PLOD2 c.1754A>T) - View
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- registered publications (1)

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- Leal, G. F., G. Nishimura, U. Voss, D. R. Bertola, E. Astrom, J. Svensson, G. L. Yamamoto, A. Hammarsjo, E. Horemuzova, N. Papadiogannakis, E. Iwarsson, G. Grigelioniene and E. Tham (2018). "Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2." J Bone Miner Res 33(4): 753-760 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "29178448".

SiMPLOD ID	Isoenzyme	Mutation	Disease phenotype	CLINVAR	Reference papers	Viewer
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
SiMPLOD2-250	Lysyl Hydroxylase 2a/2b (human)	LH2a SER166END (LH2a) - SER166END (LH2b) (PLOD2 c.497C>G)	Moderate Osteogenesis Imperfecta - Bruck Syndrome (Type II) *Likely pathogenic*	NA	Leal et al., 2018	View
SiMPLOD6-235	Lysyl Hydroxylase 2b (human)	LH2b ASP585VAL (PLOD2 c.1754A>T)	Skeletal Dysplasia Kozlowski-Reardon - Bruck Syndrome (Type II) *Pathogenic*	NA	Leal et al., 2018	View
SiMPLOD6-255	Lysyl Hydroxylase 2b (human)	LH2b TRP588CYS (PLOD2 c.1764G>T)	Moderate Osteogenesis Imperfecta - Bruck Syndrome (Type II) *Pathogenic*	NA	Leal et al., 2018	View
SiMPLOD6-254	Lysyl Hydroxylase 2b (human)	LH2b TRP561END (PLOD2 c.1682G>A)	Kyphomelic Dysplasia - Bruck Syndrome (Type II) *Likely pathogenic*	NA	Leal et al., 2018	View
SiMPLOD6-243	Lysyl Hydroxylase 2b (human)	LH2b HIS687ARG (PLOD2 c.2060A>G)	Bruck Syndrome (Type II) *Uncertain significance*	NA	Leal et al., 2018	View