Figure 2
From: Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
BMPR1B mutation spectrum. (a) The p.(K325N) substitution is located within a highly conserved region of the protein kinase domain of BMPR1B. (b) With the exception of two mutations that are associated with acromesomelic chondrodysplasia, mutations in BMPR1B are found in the intracellular signaling region. BDA1 (yellow), BDA2 and BDC/SYM1 (purple), acromesomelic chondrodysplasia (blue) and IPAH (orange). The BDA1 mutation lies within a VAST conserved β-strand. Transmembrane domain (TM). TGF-GS (Transforming growth factor β GS domain). (c) A Cn3D (v4.3) tube view of the intracellular region of BMPR1B (PDB ID: 3MDY_A). Secondary structures are colored as follows: alpha helices in green and beta strands in brown. Amino-acid substitutions are described next to each colored ball for a specific human condition; yellow represents BDA1 (p.(K325N)), purple is for BDA2 (p.I200P, p.R486Q and p.R486W) and BDC/SYM1 (p.R486Q), and orange is associated with IPAH (p.F392L).
