DPYS
Gene name: dihydropyrimidinaseOMIM ID: 613326
Chromosome location: 8q22.3
Mutations
| Disease/Phenotype | Dihydropyrimidinase deficiency |
|---|---|
| Reference transcript | NM_001385.2 |
| DNA Change | c.1078T>C |
| A.A. Change | p.Trp360Arg |
| Exon/Intron | exon 6 |
| Mutation Type | substitution |
| Reference | van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM.Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007 Jun;91(2):157-64. |
| Disease/Phenotype | Dihydropyrimidinase deficiency |
|---|---|
| Reference transcript | NM_001385.2 |
| DNA Change | c.1235G>T |
| A.A. Change | p.Arg412Met |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM.Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007 Jun;91(2):157-64. |