Validation and evolutionary conservation of the identified mutations in the patient with VUR and proteinuria.

<p>(A) Sanger sequencing analysis confirms the novel <i>COL4A3</i> mutations, <i>COL4A3_G/A_G695R</i> and <i>COL4A3_T/C_L1474P</i>, the <i>SALL2_G/C_G792R</i> and the <i>MYH9_C/T_L46F</i> mutations in the patient 1184405. (B) Multi species alignment shows that both the <i>COL4A3</i> mutation reference amino acids <i>Col4A3_ 695_G</i> and <i>Col4A3_1474_L</i>, the <i>SALL2_G792R</i> and the <i>MYH9_L46F</i> are highly conserved among species. (C) Schematic representation of Human <i>COL4A3</i> gene with the discovered mutations in patient 1184405. The domains are: signal peptide domain (red), the N terminal 7S domain (blue), the central triple helix collagenous (COL) domain (green) and the carboxy-terminal non-collagenous (NC1) domain (yellow).