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Results 1 - 10 of 10
EC Number
Amino acid exchange
Commentary
Reference
A389V
missense mutation, 6-8% of normal GLDC activity when expressed in COS7 cells
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inactivation of the sll0171 gene by introducing a spectinomycin-resistance cartridge
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knockout of glycine decarboxylase P-protein is lethal under nonphotorespiratory conditions
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mutant affected in T-protein subunit of GDC shows similar CO2-dependent regulation as wild-type cells. Glycine decarboxylase knockout mutants exposed to low CO2 accumulate far more glycine and lysine than wild-type cells or mutants with inactivated glycerate pathway
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mutation of the genes for GDC subunits P, T, or H protein. No changes in growth, pigmentation, or photosynthesis in the GDC subunit mutants, regardless of whether or not cultivated at ambient or high CO2 concentrations. Mutation of GDC leads to an increased glycine/serine ratio in the mutant cells. Supplementation of the medium with low glycine concentrations is toxic for the mutants but not for wild-type cells
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screening of 14 patients with glycine encephalopathy (GCE) or nonketotic hyperglycinemia from 13 families and genotyping: seven patients (50%) have biallelic mutations in GLDC gene, six patients (43%) have biallelic mutations in AMT gene and one patient (7%) has a mutation identified in only one allele in GLDC gene. The majority of the mutations in GLDC and AMT are missense mutations and family specific. Two mutations R265H in AMT gene and H651R in GLDC gene occur in the Penan sub-population. No mutation is found in GCSH gene
Mu0171
T protein mutant, from the gene sll0171, an internal 1 kb fragment is deleted and replaced by the aphll gene
Mu293
P protein mutant, from the gene slr0293, an internal 2.1 kb fragment is deleted and replaced by the aphll gene
Mu879
H protein mutant, from the gene slr0879, an internal 0.2 kb fragment is deleted and replaced by the aphll gene
R739H
missense mutation, 6-8% of normal GLDC activity when expressed in COS7 cells
Results 1 - 10 of 10