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Search results for keyword '19762917':
- annotated PLOD mutations (1)
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- LH2a ARG598HIS (LH2a) - ARG619HIS (LH2b) (PLOD2 c.1793G>A) - ClinVar - View
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- registered publications (1)
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- 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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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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "19762917".
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
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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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