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Results 1 - 10 of 135 > >>
EC Number Protein Variants Commentary Reference
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16A15T natural mutation found in patients with classical congenital adrenal hyperplasia, no significant difference in activity compared to wild-type 659570
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16A265C naturally occuring mutation, the mutation causes side-chain steric clashes with the neighboring residues 728691
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16A265V naturally occuring mutation, the mutation causes side-chain steric clashes with the neighboring residues 728691
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16A265V the mutant enzyme activity is similar to wild type 698190
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16A391T naturally occuring mutation, the mutation disrupts the hydrophobicity of the region 728691
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16A434V naturally occuring mutation, the mutation causes steric clashes with the heme rendering the enzyme almost inactive 728691
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16C169R naturally occuring mutation, the mutation alters the region's hydrophobicity, conserved residue C169 makes hydrophobic interactions with the loop between E-F helices and F-helix 728691
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16D322G naturally occuring mutation, the mutation prevents salt bridge formation resulting in a localized, as opposed to global, destabilization of tertiary structure 728691
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16D322G the mutation impacts significantly on enzyme function and exerts activity compatible with non-classical congenital adrenal hyperplasia, has about 27% activity for the conversion of progesterone to 11-deoxycorticosterone and 18% activity for the conversion of 17alpha-hydroxyprogesterone to 11-deoxycortisol compared to wild type activity 698190
Show all pathways known for 1.14.14.16Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.16D407N naturally occuring mutation, the mutation prevents salt bridge formation resulting in a localized, as opposed to global, destabilization of tertiary structure 728691
Results 1 - 10 of 135 > >>