Table 1.
Characteristics of COL4A5, COL4A3 and COL4A4 genes and the corresponding proteins.
Table 2.
Frequency of variants in COL4A5, COL4A3 and COL4A4 genes in LOVD databases.
Table 3.
Observed versus expected likelihood of Glycine substitutions in the COL4A5, COL4A3 and COL4A4 genes in Alport syndrome and Thin basement membrane nephropathy.
Observed number from the LOVD databases; expected number derived from data for collagen I [20].
Fig 1.
Distribution of missense variants in the COL4A5 gene in each exon corrected for exon size and demonstrating a non-uniform distribution.
Table 4.
Common Founder mutations in the COL4A5, COL4A3 and COL4A4 genes.
Table 5.
Age at end-stage renal failure and severity of mutations with COL4A5, COL4A3 and COL4A4 variants.