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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 '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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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., 2003Hyry et al., 2009
Puig-Hervas et al., 2012
Leal et al., 2018
Breslau-Siderius et al., 1998
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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
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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
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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
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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
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SiMPLOD6-243 Lysyl Hydroxylase 2b (human) LH2b HIS687ARG
(PLOD2 c.2060A>G)		 Bruck Syndrome (Type II)
Uncertain significance		 NA Leal et al., 2018
 View

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