Skip to main content
. 2020 Jul 20;130(8):4411–4422. doi: 10.1172/JCI131297

Figure 1. Homozygous CTNNBL1 mutation in a patient with CVID+AIC.

Figure 1

(A) Family pedigree with homozygous CTNNBL1 M466V mutation. The patient is II.2. (B) Confirmation of single nucleotide substitution Chr20(hg19):36488304A>G by Sanger sequencing (highlighted). The CTNNBL1 region was amplified from gDNA from the patient and 3 relatives. Representative chromatograms are shown. (C) Schematic representation of the CTNNBL1 protein structure. Numbers indicate amino acid residue numbers. BLNS, bipartite nuclear localization sequence; NAM, N-terminal anchoring motive; NTD, N-terminal domain; ARM, armadillo repeats; CTD, C-terminal domain. (D) Multiple sequence alignment of human CTNNBL1 and its orthologues. The M466 residue of human CTNNBL1 (top row) and corresponding residues in other species are highlighted.