Hereditary angioedema: Molecular and clinical differences among European populations

Extending the bioinformatic analysis to all the 95 amino acid substitutions presented in HAEdb (C1 inhibiTor gene muTATion dATAbAse, available at hae.enzim.hu7), we found that several additional alterations previously described by other researchers were estimated to be tolerant for the protein funct...

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Veröffentlicht in:Journal of allergy and clinical immunology 2015-02, Vol.135 (2), p.570-573.e10
Hauptverfasser: Speletas, Matthaios, MD, PhD, Szilagyi, Agnes, PhD, Psarros, Fotis, MD, Moldovan, Dimitru, MD, PhD, Magerl, Markus, MD, Kompoti, Maria, MD, Gramoustianou, Evangelia, PhD, Bors, Andras, PhD, Mihaly, Eniko, MD, Tordai, Attila, PhD, Avramouli, Antigoni, MSc, Varga, Lilian, PhD, Maurer, Marcus, MD, Farkas, Henriette, MD, DSc, Germenis, Anastasios E., MD, PhD
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Sprache:eng
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Zusammenfassung:Extending the bioinformatic analysis to all the 95 amino acid substitutions presented in HAEdb (C1 inhibiTor gene muTATion dATAbAse, available at hae.enzim.hu7), we found that several additional alterations previously described by other researchers were estimated to be tolerant for the protein function (Table E5 in this article's Online Repository at www.jacionline.org). [...]we suggest that bioinformatic analysis performed in cases of novel (missense) mutations could provide indications for a comprehensive analysis of SERPING1.
ISSN:0091-6749
1097-6825
DOI:10.1016/j.jaci.2014.08.007