EC Number   |
Protein Variants |
Reference |
|---|
   3.2.1.108 | D1711N |
introduction of potential N-glycosilation site, no enzymic activity, probably due to altered protein folding pattern and reduced dimerization efficiency |
208744 |
| 3.2.1.108 | E1612X |
results in congenital lactase deficiency |
696974 |
| 3.2.1.108 | G1363S |
congential lactase deficiency, CLD, mutation, DNA mutation c.4087G->A, genotype compound heterozygote for Y1390X |
683038 |
| 3.2.1.108 | G1363S |
misfolded, rest in endoplasmatic reticulum, congenital lactase deficiency, temperature sensitive |
698078 |
| 3.2.1.108 | G1363S |
results in congenital lactase deficiency |
696974 |
| 3.2.1.108 | I1697N |
introduction of potential N-glycosilation site, no enzymic activity, probably due to altered protein folding pattern and reduced dimerization efficiency |
208744 |
| 3.2.1.108 | more |
C/C-13910, less enzyme activity, lactase non-persistence, adult type hypolactasia |
701410 |
| 3.2.1.108 | more |
C/T-13910, less enzyme activity, lactase persistence |
701410 |
| 3.2.1.108 | more |
CT13910, high lactase genotype |
697365 |
| 3.2.1.108 | more |
removal of domain I (LPHDELTA1) results in a malfolded ER-localized protein. Enzyme without domain II (LPHDELTA2) is normally transported along the secretory pathway, but does not dimerize nor is enzymatically active. The lactase activity is not detectable in LPHDELTA1 and LPHDELTA2. Phlorizin hydrolase activity is only detectable in LPHDELTA2, albeit at substantially reduced levels of 4.3% |
756114 |
