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Search results for keyword '11896059':
- annotated PLOD mutations (1)
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- LH3 LEU136VAL - View
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- registered publications (1)
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- Wang, C., M. Risteli, J. Heikkinen, A. K. Hussa, L. Uitto and R. Myllyla (2002). "Identification of amino acids important for the catalytic activity of the collagen glucosyltransferase associated with the multifunctional lysyl hydroxylase 3 (LH3)." J Biol Chem 277(21): 18568-18573 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "11896059".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD3-263 Lysyl Hydroxylase 3 (human) LH3 LEU136VAL
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002 View
SiMPLOD3-267 Lysyl Hydroxylase 3 (human) LH3 ASP187ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-268 Lysyl Hydroxylase 3 (human) LH3 ASP188ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-269 Lysyl Hydroxylase 3 (human) LH3 ASP189ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-270 Lysyl Hydroxylase 3 (human) LH3 ASP190ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-271 Lysyl Hydroxylase 3 (human) LH3 ASP191ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-276 Lysyl Hydroxylase 3 (human) LH3 LEU208ILE
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-277 Lysyl Hydroxylase 3 (human) LH3 ASP392ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-278 Lysyl Hydroxylase 3 (human) LH3 ALA464ILE
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-279 Lysyl Hydroxylase 3 (human) LH3 MET650LEU
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-294 Lysyl Hydroxylase 3 (human) LH3 ARG520END
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-295 Lysyl Hydroxylase 3 (human) LH3 GLN401END
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View
SiMPLOD3-296 Lysyl Hydroxylase 3 (human) LH3 TYR388END
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Wang et al., 2002
 View

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