site-directed mutagenesis, the mutant is partly expressed as cytosolic enzyme, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme
site-directed mutagenesis, the mutant is partly expressed as cytosolic enzyme, the mutant shows altered substrate regiospecificity compared to the wild-type enzyme
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
naturally occuring mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis, CTX. One of two Japanese patients is a compound heterozygote for Arg104Gln in exon 2 and Arg441Gln in exon 8, the other patient is a compound heterozygote for Arg441Trp in exon 8 and a second mutation not identified
naturally occuring mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis, CTX. One of two Japanese patients is a compound heterozygote for Arg104Gln in exon 2 and Arg441Gln in exon 8, the other patient is a compound heterozygote for Arg441Trp in exon 8 and a second mutation not identified