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Search results for keyword '30089812':
- annotated PLOD mutations (1)
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- LH3 ASN223SER (PLOD3 c.668A>G) - ClinVar - View
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- registered publications (1)
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- Scietti, L., A. Chiapparino, F. De Giorgi, M. Fumagalli, L. Khoriauli, S. Nergadze, S. Basu, V. Olieric, L. Cucca, B. Banushi, A. Profumo, E. Giulotto, P. Gissen and F. Forneris (2018). "Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3." Nat Commun 9(1): 3163 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "30089812".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD3-259 Lysyl Hydroxylase 3 (human) LH3 ASN223SER
(PLOD3 c.668A>G)		 Connective tissue disorder (bone fragility with contractures, arterial rupture, and deafness, resembling to osteogenesis imperfecta)
Pathogenic		 6643 Salo et al., 2008Scietti et al., 2018
 View
SiMPLOD3-261 Lysyl Hydroxylase 3 (human) LH3 TRP075ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Scietti et al., 2018
 View
SiMPLOD3-262 Lysyl Hydroxylase 3 (human) LH3 TYR114ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Scietti et al., 2018
 View
SiMPLOD3-266 Lysyl Hydroxylase 3 (human) LH3 TRP148ASN LEU150THR
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Scietti et al., 2018
 View
SiMPLOD3-284 Lysyl Hydroxylase 3 (human) LH3 THR672ASN
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Scietti et al., 2018
 View
SiMPLOD3-286 Lysyl Hydroxylase 3 (human) LH3 ARG714ASN
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Scietti et al., 2018
 View
SiMPLOD3-287 Lysyl Hydroxylase 3 (human) LH3 LEU715ASP
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Scietti et al., 2018
 View
SiMPLOD3-288 Lysyl Hydroxylase 3 (human) LH3 LEU715ARG
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Scietti et al., 2018
 View

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