Table 1.
Novel HMBS Mutations & Clinical Information
| Nucleotide Change | Amino Acid Change | Gender | Number of Unrelated Probands | Elevation of Urinary PBG and/or ALA | Reduced Erythrocyte HMBS Enzyme Activity |
|---|---|---|---|---|---|
| c.89T>C | p.Leu30Pro | F | 1 | + | |
| c.231T>G | p.Phe77Leu | F | 1 | + | |
| c.334G>C | p.Ala112Pro | F | 1 | NA | |
| c.365C>A | p.Ala122Asp | F | 1 | + | |
| c.434C>T | p.Thr145Ils | F | 1 | + | |
| c.461T>C | p.Leu154Pro | F | 1 | NA | |
| c.509T>C | p.Leu170Pro | F | 1 | + | |
| c.612G>T | p.Gln204His | M/F | 2 | + | |
| c.671T>A | p.Val224Glu | F | 1 | + | |
| c.719A>G | p.Asp240Gly | F | 1 | NA | |
| c.1039G>C | p.Ala347Pro | F | 1 | + | + |
| c.208A>T | p.Lys70X | F | 1 | + | |
| c.633C>A | p.Cys211X | M | 1 | + | |
| c.831C>A | p.Tyr277X | F | 1 | NA | |
| c.996C>T | p.Gln332X | F | 1 | NA | |
| c.33_33+1delGG | F | 1 | + | ||
| c.107_111delACAG | F | 1 | NA | ||
| c.143delG | F | 1 | + | ||
| c.439_445delTCCCTGC | F | 1 | + | ||
| c.478delC | M | 1 | + | ||
| c.630_633delATGC | F | 1 | NA | ||
| c.639_641delTGC | M | 1 | − | ||
| c.850_860del11 | F | 1 | + | ||
| c.940_941delCA | F | 1 | + | ||
| c.1084delT | F | 1 | + | ||
| c.632dupG | F | 1 | − | ||
| c.633dupC | F | 1 | + | + | |
| c.720_745dup26 | F | 1 | + | ||
| c.730_731dupCT | F | 1 | − | ||
| c.863_864insT | F | 1 | NA | ||
| c.905_906insC | F | 1 | + | ||
| c.266+1G>A | F | 1 | NA | ||
| c.267-1G>C | F | 1 | NA | ||
| c.612+1G>A | M/F | 3 | NA | ||
| c.651+1G>A | F | 1 | + | ||
| c.825+3delA | F | 1 | NA | ||
| c.826-2A>T | F | 1 | + | ||
| c.825+2dupT | F | 1 | NA | ||
| c.913-1G>C | F | 1 | + | ||
| c.578_581delTGCAGinsA, c.604_612+28del37 | M | 1 | NA |
NA. Not available