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Search results for keyword '10934207':
- annotated PLOD mutations (1)
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- LH3 ASP669ALA - View
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- registered publications (1)
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- Heikkinen, J., M. Risteli, C. Wang, J. Latvala, M. Rossi, M. Valtavaara and R. Myllyla (2000). "Lysyl hydroxylase 3 is a multifunctional protein possessing collagen glucosyltransferase activity." J Biol Chem 275(46): 36158-36163 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "10934207".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD3-282 Lysyl Hydroxylase 3 (human) LH3 ASP669ALA
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Heikkinen et al., 2000 View
SiMPLOD3-292 Lysyl Hydroxylase 3 (human) LH3 LEU231END
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Heikkinen et al., 2000
 View
SiMPLOD3-293 Lysyl Hydroxylase 3 (human) LH3 loop283-297
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Heikkinen et al., 2000
 View
SiMPLOD3-297 Lysyl Hydroxylase 3 (human) LH3 TYR521END
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Heikkinen et al., 2000
 View
SiMPLOD3-298 Lysyl Hydroxylase 3 (human) LH3 HIS668END
(PLOD3)		 Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)		 NA Heikkinen et al., 2000
 View

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