KLK4 coding region sequence alterations detected in affected siblings
Exon | Genomic DNA* | c.DNA† | Protein‡ |
---|---|---|---|
*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. | |||
3 | g.1327T>G | c.64T>G | p.S22A |
4 | g.1984C>T | c.300C>T | p.S100S |
4 | g.2142G>A | c.458G>A | p.W153X |