SiMPLOD v. 0.6.2 alpha

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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table below is currently showing ALL MUTATION TYPES yielding ALL PHENOTYPES on ALL PROTEINS, Regardless if PUBLISHED or UNPUBLISHED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