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G362E
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mutation occurs in one of two beta-sheets that form the structure of the FAD binding domain likely disrupting the secondary structur. Phenotype of homozygous let-721 mutant is maternal effects lethality. F1 homozygotes have no gross morphological or developmental defects. The maternal effect lethal manifests as the self-fertilized offspring arrest as unhatched embryos. F1 worms are also self semi-sterile, as unmated homozygous mutants produce significantly fewer embryos than wild-type worms
S61F
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affected residue lies within a conserved domain that interacts with the adenine monophosphate moiety of the FAD prosthetic group. Phenotype of homozygous let-721 mutant is maternal effects lethality. F1 homozygotes have no gross morphological or developmental defects. The maternal effect lethal manifests as the self-fertilized offspring arrest as unhatched embryos. F1 worms are also self semi-sterile, as unmated homozygous mutants produce significantly fewer embryos than wild-type worms
N338A
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the mutation has no impact on the reduction potential for the iron-sulfur cluster and leads to a slight increase in disproportionation activity (110% relative to wild type activity)
N338T
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the mutation has no impact on the reduction potential for the iron-sulfur cluster and leads to a slight increase in disproportionation activity (110% relative to wild type activity)
T525A
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the mutation decreases the midpoint potentials of the iron-sulfur cluster resulting in a decrease in steady-state ubiquinone reductase activity and in electron transfer flavoprotein semiquinone disproportionation, there is no detectable effect of the mutation on the flavin midpoint potentials
Y501F
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the mutation decreases the midpoint potentials of the iron-sulfur cluster resulting in a decrease in steady-state ubiquinone reductase activity and in electron transfer flavoprotein semiquinone disproportionation, there is no detectable effect of the mutation on the flavin midpoint potentials
Y501F/T525A
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the mutation decreases the midpoint potentials of the iron-sulfur cluster resulting in a decrease in steady-state ubiquinone reductase activity and in electron transfer flavoprotein semiquinone disproportionation, there is no detectable effect of the mutation on the flavin midpoint potentials
F231C
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naturally occuring mutation, the feline patient-specific mutation c.692T>G (p.F231C) in enzyme ETFDH in feline ETFDH is completely conserved in eukaryotes, and is located on the apical surface of enzyme ETFDH, receiving electrons from electron-transferring flavoprotein (ETF) causing multiple acyl-CoA dehydrogenation deficiency (MADD) in the cat, phenotype, overview
A84T/S307C
mutations identified in a chinese woman with late-onset glutaric aciduria type II. The muscle biopsy of the patient reveals lipid storage myopathy. Blood biochemical test and urine organic acid analyses are consistent with glutaric aciduria type II
C561A
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mutant enzyme has no ubiquinone reductase activity
D218N
heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
G611E
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
I31T
neutral naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no effect on enzyme activity or expression, occurs together with other mutantions, overview
L262F
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
L334P
homo- or heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts
L334P/Q222P
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II
L377P
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the mutation is involved in the myopathic form of CoQ10 deficiency
M1T
homo- and heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
P456L
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the mutation affects most likely the catalytic activity and the stability of the tetramer
P483L
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the mutation affects most likely the catalytic activity and the stability of the tetramer
P562L
heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
R41X/L138R
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II
R452K
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II
S82F/D218N
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts
S82P/H346R
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
W182X/P456L
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts
Y49C
heterozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts
additional information
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enzyme disruption mutant, mutant plants show a dramatic reduction in the ability to withstand extended darkness, resulting in senescence and death within 10 days after transfer. Leaves of mutants have a decline in sugar levels but significant accumulation of several amino acids and phytanoyl-CoA
additional information
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identification of mutants of the ETF/ETFQO complex
additional information
construction of strain Detfdh2 K56-2 DBCAS0609 through deletion of putative ETF dehydrogenase and of strain Cetfdh1 K56-2 rhaP::BCAL1468/Tpr, showing rhamnose-dependent etfdh1 expression in K56 background, in the latter in the presence of etfdh2, lack of etfdh1 expression reduces growth to 29% of growth with rhamnose
additional information
construction of strain Detfdh2 K56-2 DBCAS0609 through deletion of putative ETF dehydrogenase and of strain Cetfdh1 K56-2 rhaP::BCAL1468/Tpr, showing rhamnose-dependent etfdh1 expression in K56 background, in the latter in the presence of etfdh2, lack of etfdh1 expression reduces growth to 29% of growth with rhamnose
additional information
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construction of strain Detfdh2 K56-2 DBCAS0609 through deletion of putative ETF dehydrogenase and of strain Cetfdh1 K56-2 rhaP::BCAL1468/Tpr, showing rhamnose-dependent etfdh1 expression in K56 background, in the latter in the presence of etfdh2, lack of etfdh1 expression reduces growth to 29% of growth with rhamnose
additional information
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construction of strain Detfdh2 K56-2 DBCAS0609 through deletion of putative ETF dehydrogenase and of strain Cetfdh1 K56-2 rhaP::BCAL1468/Tpr, showing rhamnose-dependent etfdh1 expression in K56 background, in the latter in the presence of etfdh2, lack of etfdh1 expression reduces growth to 29% of growth with rhamnose
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additional information
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three independent mutant alleles, corresponding to three distinct point mutations in ETF:QO, are lethal as a result of a specific knockdown of FAD binding by direct disruption of the cofactor binding motif within the nucleotide binding Rossmann fold, a nucleotide binding structural domain also present in ETF:QO, which comprises a beta-strand connected by a short loop to an alpha-helix, and includes an expanded sequence motif (V/IxGx12GxxGxxxG/A) that affords both FAD binding and stabilisation of the secondary structure elements involved, overview
additional information
determination and analysis of diverse naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, phenotypic effects, overview
additional information
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determination and analysis of diverse naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, phenotypic effects, overview
additional information
generation of gene deletion mutants of the two ETF genes (ETFA and ETFB) and the ETFDH gene (ETFDH) by targeted gene deletion mutagenesis, mutant are named etfa?, etfb? and etfdh? respectively. ETF and ETFDH mutants display growth and conidiation defects, phenotypes, overview
additional information
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generation of gene deletion mutants of the two ETF genes (ETFA and ETFB) and the ETFDH gene (ETFDH) by targeted gene deletion mutagenesis, mutant are named etfa?, etfb? and etfdh? respectively. ETF and ETFDH mutants display growth and conidiation defects, phenotypes, overview