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Literature summary for 1.1.1.145 extracted from

  • Welzel, M.; Wuestemann, N.; Simic-Schleicher, G.; Doerr, H.G.; Schulze, E.; Shaikh, G.; Clayton, P.; Groetzinger, J.; Holterhus, P.M.; Riepe, F.G.
    Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia (2008), J. Clin. Endocrinol. Metab., 93, 1418-1425.
    View publication on PubMed

Application

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

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

Organism UniProt Comment Textmining
Homo sapiens
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