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Literature summary for 1.14.14.16 extracted from

  • Barbaro, M.; Baldazzi, L.; Balsamo, A.; Lajic, S.; Robins, T.; Barp, L.; Pirazzoli, P.; Cacciari, E.; Cicognani, A.; Wedell, A.
    Functional studies of two novel and two rare mutations in the 21-hydroxylase gene (2006), J. Mol. Med., 84, 521-528.
    View publication on PubMed
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Protein Variants

Protein Variants Comment Organism
I171N mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity Homo sapiens
L446P mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity Homo sapiens
R341P mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity Homo sapiens
R426H mutation identified in Italian patient with congenital adrenal hyperplasia, less than 1% of wild-type enzyme activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 Italian patients with congenital adrenal hyperplasia
-