A Single Amino Acid Substitution in the Putative Redox Partner-Binding Site of P450c17 as Cause of Isolated 17,20-Lyase Deficiency

1997 ◽  
Vol 82 (11) ◽  
pp. 3807-3812 ◽  
Author(s):  
A. Biason-Lauber
Keyword(s):  
Amino Acid ◽  
Binding Site ◽  
Amino Acid Substitution ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid ◽  
Lyase Deficiency ◽  
Redox Partner

scholarly journals A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Ashkan Habib ◽  
Alireza Shojazadeh ◽  
Mohadeseh Molayemat ◽  
Hossein Jafari Khamirani ◽  
Sina Zoghi ◽  
...  
Keyword(s):  
Amino Acid ◽  
Binding Site ◽  
Single Amino Acid ◽  
Previous Description ◽  
Mutation Site ◽  
Protein Mutation ◽  
Lyase Deficiency ◽  
Redox Partner ◽  
Iranian Family ◽  
Homozygous Mutations

AbstractIn this study, we detected homozygous mutations in the CYP17A1 gene (NM_000102.4:c.1053_1055delCCT; p.Leu353del; SCV001479329) in a 28-year-old female patient (46,XX) and her phenotypically female 30-year-old sister (46,XY) who had phenotypes consistent with combined 17-hydroxylase and 17,20-lyase deficiency. The phenotypes were not expected based on the location of the mutation in the CYP17A1 redox partner-binding site and a previous description of the same mutation linked with isolated 17,20-lyase deficiency.

Engineering a carotenoid-binding site in Dokdonia sp. PRO95 Na+-translocating rhodopsin by a single amino acid substitution

2017 ◽  
Vol 136 (2) ◽  
pp. 161-169 ◽  
Author(s):  
Viktor A. Anashkin ◽  
Yulia V. Bertsova ◽  
Adalyat M. Mamedov ◽  
Mahir D. Mamedov ◽  
Alexander M. Arutyunyan ◽  
...  
Keyword(s):  
Amino Acid ◽  
Binding Site ◽  
Amino Acid Substitution ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid

scholarly journals A large compressibility change of protein induced by a single amino acid substitution

1996 ◽  
Vol 5 (3) ◽  
pp. 542-545 ◽  
Author(s):  
Kunihiko Gekko ◽  
Youjiro Tamura ◽  
Eiji Ohmae ◽  
Hideyuki Hayashi ◽  
Hiroyuki Kagamiyama ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Substitution ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid
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