EC Number |
Protein Variants |
Reference |
---|
1.14.15.15 | F207A/I211A/F215A |
site-directed mutagenesis, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme |
671957 |
1.14.15.15 | F207K |
site-directed mutagenesis, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme |
671957 |
1.14.15.15 | F207K/I211K/F215K |
site-directed mutagenesis, nearly no expression of the mutant in Escherichia coli |
671957 |
1.14.15.15 | F215A |
site-directed mutagenesis, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme |
671957 |
1.14.15.15 | F215K |
site-directed mutagenesis, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme |
671957 |
1.14.15.15 | I211K |
site-directed mutagenesis, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme |
671957 |
1.14.15.15 | I211K/F215K |
site-directed mutagenesis, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme |
671957 |
1.14.15.15 | more |
construction of enzyme knockout null mutant mice |
736561 |
1.14.15.15 | more |
expression and subcellular distribution of the P450 27A1 mutants, overview |
671957 |
1.14.15.15 | more |
naturally occuring mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis, CTX. A German patient is a compound heterozygote carrying two mutations both located in exon 8, phenotypes, overview. One mutation is a novel four nucleotide deletion, c.1330-1333delTTCC, that results in a frameshift and the occurrence of a premature stop codon leading to the formation of a truncated protein of 448 amino acids. The other mutation, previously reported, is a C - > T transition, c.c.1381C-T, that converts the glutamine codon at position 461 into a termination codon, p.Q461X |
713175 |