Table 1.

Description of mutations found in familial benign hematuria (FBH) families

FamilyMutationLocationPredicted EffectRestriction Site
COL4A3COL4A4
Restriction sites: acreated or babolished by mutations.
HFB-1G1015EExon 36Missense mutation in the collagenous domain
HFB-2G985VExon 35Missense mutation in the collagenous domainRsaIa
HFB-3
HFB-4
HFB-5
HFB-6
HFB-73222insAExon 35Frameshift, stop after 1 amino acid
HFB-8IVS23-1G>CIntron 23Aberrant splicing of exon 24
HFB-9G960RExon 32Missense mutation in the collagenous domainMspIb
HFB-10
HFB-1131del11Exon 2Frameshift, stop after 46 amino acids