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. Author manuscript; available in PMC: 2019 May 22.
Published in final edited form as: Science. 2018 Jul 19;361(6404):810–813. doi: 10.1126/science.aar2641

Fig. 1. Mutations of the RIPK1 gene cause complete RIPK1 deficiency.

Fig. 1

(A) Three families with the RIPK1 gene mutations: wt, wild-type allele; mut, mutant allele.○ and □ - unaffected; ● and ■ - affected. (B) Patients’ mutations. Locations of deletions are shown by red arrows; deleted nucleotides are shown by red frames. Deletion of exon 4 in P4 (right panel). (C) Domains of the RIPK1 protein. RHIM - Receptor-interacting protein (RIP) Homotypic Interaction Motif. Codons affected by mutations are shown by red lines; codon numbers and corresponding patients are indicated above. (D) Western blot assays for detection of RIPK1 protein in fibroblasts (left panel) and T cell blasts (right panel).