Figure 2.
(A) Schematic representation of the DNAH5 protein (4624 amino acids). Stem, stalk, and ATPases Associated with a variety of cellular Activities (AAA) regions are shown as blocks. Missense and nonsense variations identified here are displayed above the block diagram. Twenty-one amino acid regions, centered around missense/nonsense variations, obtained from a multiple sequence alignment of DNAH5 proteins from human, chimpanzee, mouse, rat, dog, horse, bovine, frog, chicken, and zebra fish are shown in B-M–(B) N751K (c.2253C>A); (C) V941I (c.2821G>A); (D) G1358S (c.4072G>A); (E) N1444S (c.4331A>G); (F) G1504R (c.4510G>C); (G) G1563S (c.4687G>A); (H) P1603T (c.4807C>A); (I) Q1835Ter (c.5503C>T); (J) L2413P (c.7238T>C); (K) T2540M (c.7619C>T); (L) R2922H (c.8765G>A); (M) V4237F (c.12709G>T).