SiMPLOD v. 0.6.2 alpha

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Search results for keyword '22689593':
- 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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- Puig-Hervas, M. T., S. Temtamy, M. Aglan, M. Valencia, V. Martinez-Glez, M. J. Ballesta-Martinez, V. Lopez-Gonzalez, A. M. Ashour, K. Amr, V. Pulido, E. Guillen-Navarro, P. Lapunzina, J. A. Caparros-Martin and V. L. Ruiz-Perez (2012). "Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum." Hum Mutat 33(10): 1444-1449 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "22689593".

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., 2004 Hyry et al., 2009 Puig-Hervas et al., 2012	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
SiMPLOD6-331	Lysyl Hydroxylase 2b (human)	LH2b VAL523CYSFS (PLOD2 c.1559dup)	Bruck Syndrome (Type II) *Pathogenic*	41424	Puig-Hervas et al., 2012	View