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Results 1 - 6 of 6
EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 2.7.11.4G671C naturally occuring mutation, on chromosome 16, leads to the substitution of a highly conserved arginine with a proline at position 224 in BCKDK 723772
Display the word mapDisplay the reaction diagram Show all sequences 2.7.11.4L389P the mutation is associated with developmental delay, microcephaly, and neurobehavioral abnormalities 738353
Display the word mapDisplay the reaction diagram Show all sequences 2.7.11.4more circulating levels of the branched-chain amino acids (BCAAs) are reduced by 70-80% in animals homozygous for the mutation causing a phenotype named frogleg. The mutationis located within the kinase domain of Bckdk. The frogleg phenotype shares important characteristics with a previously described Bckdk knockout mouse and with human subjects with Bckdk mutations. The mutation affects both the central and peripheral nervous systems 762211
Display the word mapDisplay the reaction diagram Show all sequences 2.7.11.4more identification of mutations from autism patients , e.g. in exon 4 (C466T) resulting in a premature stop codon at amino acid position 156, prior to the kinase domain, or a single base deletion (c.G222del) in exon 2 leading to frame-shift terminating the protein at position 74 of 412 amino acids, whole-exome sequencing from two consanguineous families 723772
Display the word mapDisplay the reaction diagram Show all sequences 2.7.11.4R174G the mutation is associated with developmental delay, microcephaly, and neurobehavioral abnormalities 738353
Display the word mapDisplay the reaction diagram Show all sequences 2.7.11.4R224P naturally occuring mutation, leading to disruption of the beta sheet in a flexible linker domain, structure modeling 723772
Results 1 - 6 of 6