Table 2

KLK4 coding region sequence alterations detected in affected siblings

ExonGenomic DNA*c.DNAProtein
*Reference sequence GenBank accession no AF228497; the A of the initiator ATG is taken as +1.
Reference sequence GenBank accession no NM_004917; the A of the initiator ATG is taken as +1.
Initiator methionine at the +1 position.
3g.1327T>Gc.64T>Gp.S22A
4g.1984C>Tc.300C>Tp.S100S
4g.2142G>Ac.458G>Ap.W153X