EC Number   |
Protein Variants |
Reference |
|---|
   3.2.1.76 | 134del12 |
homozygous genotype with only residual enzyme activity |
732511 |
| 3.2.1.76 | A160D |
severe mucopolysaccharidosis type I phenotype |
699314 |
| 3.2.1.76 | A319V |
attenuated mucopolysaccharidosis type I phenotype |
699314 |
| 3.2.1.76 | A327P |
A327P/A327P and A327P/unknown, naturally occuring homozygous and indefinite mutant genotypes with only residual enzyme activity at 37°C |
732511 |
| 3.2.1.76 | A327P |
homozygous genotype with only residual enzyme activity |
732511 |
| 3.2.1.76 | A327P |
naturally occuring mutation in the IDUA gene from an MPS I patient |
708174 |
| 3.2.1.76 | A327P |
severe mucopolysaccharidosis type I phenotype |
699314 |
| 3.2.1.76 | A327P/R383H |
a genotype with only residual enzyme activity |
732511 |
| 3.2.1.76 | A75T |
severe mucopolysaccharidosis type I phenotype |
699314 |
| 3.2.1.76 | A79V |
intermediate mucopolysaccharidosis type I phenotype |
699314 |
