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You can restrict your search results to a specific LH isoenzyme
You can restrict your search results to a specific LH isoenzyme
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Explore mutations supported or not supported by publications registered in PubMed


Search results for keyword '8621606':
- annotated PLOD mutations (1)
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- LH1 ASN163GLN - View
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- registered publications (1)
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- Pirskanen, A., A. M. Kaimio, R. Myllyla and K. I. Kivirikko (1996). "Site-directed mutagenesis of human lysyl hydroxylase expressed in insect cells. Identification of histidine residues and an aspartic acid residue critical for catalytic activity." J Biol Chem 271(16): 9398-9402 - 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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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 "8621606".
SiMPLOD ID Isoenzyme Mutation Disease phenotype CLINVAR Reference papers Viewer
SiMPLOD1-57 Lysyl Hydroxylase 1 (human) LH1 ASN163GLN
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996 View
SiMPLOD1-58 Lysyl Hydroxylase 1 (human) LH1 ASN197GLN
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-62 Lysyl Hydroxylase 1 (human) LH1 ASN538GLN
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-63 Lysyl Hydroxylase 1 (human) LH1 ASN686SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-77 Lysyl Hydroxylase 1 (human) LH1 ASP491ALA
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-79 Lysyl Hydroxylase 1 (human) LH1 ASP638ALA
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-80 Lysyl Hydroxylase 1 (human) LH1 ASP674ALA
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-81 Lysyl Hydroxylase 1 (human) LH1 ASP648ALA
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-82 Lysyl Hydroxylase 1 (human) LH1 ASP658ALA
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-108 Lysyl Hydroxylase 1 (human) LH1 HIS088SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-109 Lysyl Hydroxylase 1 (human) LH1 HIS225SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-110 Lysyl Hydroxylase 1 (human) LH1 HIS241SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-115 Lysyl Hydroxylase 1 (human) LH1 HIS474SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-119 Lysyl Hydroxylase 1 (human) LH1 HIS517SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-121 Lysyl Hydroxylase 1 (human) LH1 HIS536SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-122 Lysyl Hydroxylase 1 (human) LH1 HIS613SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-123 Lysyl Hydroxylase 1 (human) LH1 HIS656SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-124 Lysyl Hydroxylase 1 (human) LH1 HIS657SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-125 Lysyl Hydroxylase 1 (human) LH1 HIS700SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-127 Lysyl Hydroxylase 1 (human) LH1 HIS706SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View
SiMPLOD1-129 Lysyl Hydroxylase 1 (human) LH1 HIS708SER
(PLOD1)
Biochemical mutation (not necessary related to observed polymorphisms)
Mutation for Biochemical Studies (not necessarily related to observed polymorphisms)
NA Pirskanen et al., 1996
View

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