EC Number |
Protein Variants |
Reference |
---|
2.7.11.4 | G671C |
naturally occuring mutation, on chromosome 16, leads to the substitution of a highly conserved arginine with a proline at position 224 in BCKDK |
723772 |
2.7.11.4 | L389P |
the mutation is associated with developmental delay, microcephaly, and neurobehavioral abnormalities |
738353 |
2.7.11.4 | more |
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 |
2.7.11.4 | more |
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 |
2.7.11.4 | R174G |
the mutation is associated with developmental delay, microcephaly, and neurobehavioral abnormalities |
738353 |
2.7.11.4 | R224P |
naturally occuring mutation, leading to disruption of the beta sheet in a flexible linker domain, structure modeling |
723772 |