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D198A
WP_026149280
mutation enhances the expression of 1,4-dihydroxy-2-naphthoic acid octaprenyltransferase (MenA), which increases menaquinone production by 130.0%
D76A
WP_026149280
mutation enhances the expression of 1,4-dihydroxy-2-naphthoic acid octaprenyltransferase (MenA), which increases menaquinone production by 87.9%
G68A
WP_026149280
mutation has no influence on expression of 1,4-dihydroxy-2-naphthoic acid octaprenyltransferase (MenA)
K81A
WP_026149280
mutation enhances the expression of 1,4-dihydroxy-2-naphthoic acid octaprenyltransferase (MenA), which increases menaquinone production by 96.2%
L139A
WP_026149280
mutation enhances the expression of 1,4-dihydroxy-2-naphthoic acid octaprenyltransferase (MenA), which increases menaquinone production by 109.7%
N72A
WP_026149280
mutation enhances the expression of 1,4-dihydroxy-2-naphthoic acid octaprenyltransferase (MenA), which increases menaquinone production by 127.1%
S61A
WP_026149280
mutation has no influence on expression of 1,4-dihydroxy-2-naphthoic acid octaprenyltransferase (MenA)
D191A
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mutant shows no 3-geranylgeranyl-4-hydroxybenzoate formation, mutant shows some residual hydrolysis activity
D195A
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mutant shows no 3-geranylgeranyl-4-hydroxybenzoate formation, mutant shows some residual hydrolysis activity
D71A
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mutant shows no 3-geranylgeranyl-4-hydroxybenzoate formation, mutant shows some residual hydrolysis activity
D75A
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mutant shows no 3-geranylgeranyl-4-hydroxybenzoate formation, mutant shows some residual hydrolysis activity
R137A
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mutant shows a strongly reduced formation of 3-geranylgeranyl-4-hydroxybenzoate, mutant shows some residual hydrolysis activity
R197H/N228S
naturally occurring lethal enzyme mutation, renal phenotype including collapsing glomerulonepritis and steroid-resistant nephrotic syndome
S109N
naturally occurring lethal mutation causing a severe phenotype, CoQ10 synthesis is significantly decreased in cultured skin fibroblasts, a kidney sample reveals focal segmental glomerulosclerosis lesions, The affected glomeruli demonstrate mesangial hypercellularity, segmental sclerosis of glomerular capillaries, enlarged podocytes with intracytoplasmic hyaline vacuoles and adhesions to the Bowman's capsule, podocytes are enlarged and show extensive foot process effacement, overview
S146N
naturally occurring lethal enzyme mutation, the mutation causes oliguria, oligohydramnios, hypertension, and seizures
Y297C
naturally occurring lethal enzyme mutation causing a severe phenotype, with end-stage renal failure, focal segmental glomeruloslerosis, steroid-resistant nephrotic syndome, developmental delay and developmental regression, optic atrophy, seizures, myoclonic seizures, refractory seizures, status epilepticus, and nystagmoid movements, overview
additional information
gene disruption in Arabidopsis leads to arrest of embryo development at an early stage of zygotic embryogenesis
additional information
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gene disruption in Arabidopsis leads to arrest of embryo development at an early stage of zygotic embryogenesis
additional information
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in patients with encephalomyopathy, nephropathy and severe CoQ10 deficiency, a homozygous mutation was identified in the CoQ10 biosynthesis gene COQ2. mRNA levels of this gene are significantly increased in patients fibroblast, and its activity is significantly lower in fibroblasts of patients with mutation c.890A.G relative to controls and CoQ10-deficient fibroblasts from ataxic patient. Wild-type enzyme is able to complement Coq2 defective Sacharomyces cerevisiae
additional information
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CoQ biosynthesis in yeast null mutant cells can be rescued with expression of the human enzyme at a lower rate compared to cells rescued with the yeast enzyme
additional information
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introduction of mutation c.783 A>G, which is the equivalent of human mutation c.890 A>G associated with encephalomyopathy, nephropathy and severe coenzyme Q10 deficiency results in decrease of coenzyme Q6 to 59% of wild-type and decreases growth in respiratory-chain dependent medium. Level of demetoxy-Q6 increases in mutant strains