Characteristics of URO-D mutations
| Mutation . | Exon . | Location in cDNA . | RFLP . | Recombinant URO-D activity . |
|---|---|---|---|---|
| G25E | 2 | G → A 74 | EarI (+) | INS |
| A80S12 | 4 | G → T 238 | HinfI (+) | 33.4% |
| V134Q4 3-150 | 5 | G TG → C CA 399 | BsrI (+) | 93.7% |
| G156D | 5 | G → A 467 | BanI (−) | 28.8% |
| M165R13 | 6 | T → G 494 | NlaIII (−) | INS |
| E167K6 | 6 | G → A 499 | MseI (+) | 93.5% |
| Exon 6 splice30 | /6/ | G → C IVS6 | PvuII (+) | NT |
| R193P3-150 | 6 | G → C 578 | SfaNI(−) | INS |
| Glu218insT | 7 | Insert T 652 | None | NT |
| F232L | 7 | T → C 694 | StuI (−) | 43.0% |
| L253Q9 | 7 | T → A 758 | HindIII (+) | 75.0% |
| I260T | 8 | T → C 779 | HphI (+) | 60.5% |
| Mutation . | Exon . | Location in cDNA . | RFLP . | Recombinant URO-D activity . |
|---|---|---|---|---|
| G25E | 2 | G → A 74 | EarI (+) | INS |
| A80S12 | 4 | G → T 238 | HinfI (+) | 33.4% |
| V134Q4 3-150 | 5 | G TG → C CA 399 | BsrI (+) | 93.7% |
| G156D | 5 | G → A 467 | BanI (−) | 28.8% |
| M165R13 | 6 | T → G 494 | NlaIII (−) | INS |
| E167K6 | 6 | G → A 499 | MseI (+) | 93.5% |
| Exon 6 splice30 | /6/ | G → C IVS6 | PvuII (+) | NT |
| R193P3-150 | 6 | G → C 578 | SfaNI(−) | INS |
| Glu218insT | 7 | Insert T 652 | None | NT |
| F232L | 7 | T → C 694 | StuI (−) | 43.0% |
| L253Q9 | 7 | T → A 758 | HindIII (+) | 75.0% |
| I260T | 8 | T → C 779 | HphI (+) | 60.5% |
Superscript numbers indicate references for mutations previously reported.
Location in cDNA indicates where A of initial ATG is 1.
RFLP indicates restriction fragment length polymorphism; (+), adds the restriction site; INS, insoluble protein in inclusion bodies; (−), removes restriction site; and NT, not tested, no protein produced.
RFLP mutation was identified in 2 unrelated patients with PCT.