The second mutation is the di-nucleotide substitution c.467C > A and c.468C > T in exon 3 that causes the missense mutation A118D in the SEA domain of the extracellular stem region of matriptase-2 .
O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O B-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O O O O O B-SequenceVariant O O O O O O O O O O B-GeneOrGeneProduct O