Literature summary for 1.14.14.16 extracted from

Krone, N.; Riepe, F.G.; Groetzinger, J.; Partsch, C.; Braemswig, J.; Sippell, W.G.
The residue E351 is essential for the activity of human 21-hydroxylase: evidence from a naturally occurring novel point mutation compared with artificial mutants generated by single amino acid substitutions (2005), J. Mol. Med., 83, 561-568.

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Protein Variants

Protein Variants	Comment	Organism
E351K	rare missense mutation located in the ERR triad and found in a patient with virilizing congenital hyperplasia. Residual activity is about 1% of wild-type for both 17-hydroxyprogesterone and progesterone	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)