Application | Comment | Organism |
---|---|---|
medicine | identification of mutations L341P, W355stop, and R355stop, in HSD3B2 gene in neonates with classical 3beta-hydroxysteroid dehydrogenase type II deficiency and under-virilization | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L341P | mutation in HSD3B2 gene identified in neonate with classical 3beta-hydroxysteroid dehydrogenase type II deficiency and under-virilization. About 6% of wild-type activity, putative structural alteration in protein | Homo sapiens |
R335stop | mutation in HSD3B2 gene identified in neonate with classical 3beta-hydroxysteroid dehydrogenase type II deficiency and under-virilization. No conversion of pregnenolone or dehydroepiandrosterone | Homo sapiens |
W355stop | mutation in HSD3B2 gene identified in neonate with classical 3beta-hydroxysteroid dehydrogenase type II deficiency and under-virilization. No conversion of pregnenolone or dehydroepiandrosterone | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |