Figure 3

COL4A3 mutation identified in Family 2. (A) Pedigree for family 2. A full-shaded icon denotes ESRD; A 3/4-shaded icon denotes individual with impaired renal function; a half-shaded icon denotes individuals with microscopic hematuria and proteinuria but with normal renal function; 1/4-shaded icon denotes isolated hematuria. Asterisk indicates the individual examined by whole exome sequencing. (B) Sanger sequencing electropherograms confirming the heterozygous missense COL4A3 c.G2290A (p.Gly997Glu) mutation, and multiple species protein sequence alignment showing conservation of the mutated Gly997 residue.