Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium Attila Kumánovics, MD, Yu Nee Lee, PhD,

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Presentation transcript:

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium Attila Kumánovics, MD, Yu Nee Lee, PhD, Devin W. Close, PhD, Emily M. Coonrod, PhD, Boglarka Ujhazi, MSc, Karin Chen, MD, Daniel G. MacArthur, PhD, Gergely Krivan, MD, Luigi D. Notarangelo, MD, Jolan E. Walter, MD, PhD Journal of Allergy and Clinical Immunology Volume 139, Issue 2, Pages 690-692.e3 (February 2017) DOI: 10.1016/j.jaci.2016.07.027 Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 A, Sixty-eight sequence reads (shown in red) span both R410 and R449 and show that R410Q and R449K occur in cis. B, Sanger sequencing confirms the presence of both R410Q and R449K in the healthy mother. C and D, Modeling of superimposed x-ray crystal structures of a RAG1 homodimer (2 identical chains shown in green and blue) complexed with DNA (PDB ID 3GNA)8 and a RAG1/2 complex (PDB ID 4WWX7) reveal a role for R410 in DNA binding, R778 for the RAG2 interaction, but finds no intramolecule or intermolecular contacts for R449. In addition, the amino acid change of arginine (R) to lysin (K) observed in the R449K mutation corresponds to a mild change of the side chain (both basic side chains). However, the arginine to glutamine (Q) change in both R410Q and R778Q results in significant alteration of the amino acid side chain polarity from nonpolar to polar side chain. Journal of Allergy and Clinical Immunology 2017 139, 690-692.e3DOI: (10.1016/j.jaci.2016.07.027) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions