Cloned (Comment) | Organism |
---|---|
DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
E178G | exon 6 A533G mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis | Homo sapiens |
additional information | arginine mutations are important for the evolutionary structure and function of the phenylalanine hydroxylase gene, phenylketonuria patients from the Cukurova region in Turkey show in 50% of investigated alleles the IvsVS10-11g splicing mutation, overview | Homo sapiens |
P281L | exon 7 C842T mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis | Homo sapiens |
R243Q | exon 7 G728A mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis | Homo sapiens |
R243X | exon 6 C727T mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis | Homo sapiens |
R261Q | exon 7 G728A mutation naturally occuring in phenylketonuria patients from the Cukurova region in Turkey, sequence determination and analysis, second most found mutation within 23 patients | Homo sapiens |
R408W | exon 12 C1222T mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis | Homo sapiens |
Y386C | exon 11 A1157G mutation naturally occuring in phenylketonuria patient from the Cukurova region in Turkey, sequence determination and analysis | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P00439 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
PAH | - |
Homo sapiens |
phenylalanine hydroxylase | - |
Homo sapiens |