Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants

Reference database based on the alanine-scanning assay is a useful tool for evaluating unknown variations in STAT1. Gain-of-function alanine mutants occurred at the interface of the antiparallel STAT1 dimer, suggesting that they destabilize this dimer.

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Published in:Journal of allergy and clinical immunology 2016-12, Vol.140 (1), p.232-241
Main Authors: Kagawa, Reiko, Fujiki, Ryoji, Tsumura, Miyuki, Sakata, Sonoko, Nishimura, Shiho, Itan, Yuval, Kong, Xiao-Fei, Kato, Zenichiro, Ohnishi, Hidenori, Hirata, Osamu, Saito, Satoshi, Ikeda, Maiko, El Baghdadi, Jamila, Bousfiha, Aziz, Fujiwara, Kaori, Oleastro, Matias, Yancoski, Judith, Perez, Laura, Danielian, Silvia, Ailal, Fatima, Takada, Hidetoshi, Hara, Toshiro, Puel, Anne, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Casanova, Jean-Laurent, Ohara, Osamu, Okada, Satoshi, Kobayashi, Masao
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container_title Journal of allergy and clinical immunology
container_volume 140
creator Kagawa, Reiko
Fujiki, Ryoji
Tsumura, Miyuki
Sakata, Sonoko
Nishimura, Shiho
Itan, Yuval
Kong, Xiao-Fei
Kato, Zenichiro
Ohnishi, Hidenori
Hirata, Osamu
Saito, Satoshi
Ikeda, Maiko
El Baghdadi, Jamila
Bousfiha, Aziz
Fujiwara, Kaori
Oleastro, Matias
Yancoski, Judith
Perez, Laura
Danielian, Silvia
Ailal, Fatima
Takada, Hidetoshi
Hara, Toshiro
Puel, Anne
Boisson-Dupuis, Stéphanie
Bustamante, Jacinta
Casanova, Jean-Laurent
Ohara, Osamu
Okada, Satoshi
Kobayashi, Masao
description Reference database based on the alanine-scanning assay is a useful tool for evaluating unknown variations in STAT1. Gain-of-function alanine mutants occurred at the interface of the antiparallel STAT1 dimer, suggesting that they destabilize this dimer.
doi_str_mv 10.1016/j.jaci.2016.09.035
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title Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants
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