The heterozygous c.973G > A transition in exon 9 resulted in a substitution of lysine for glutamic acid at amino acid 325 ( E325K ) in the second calcium-binding EGF domain .
O O B-SequenceVariant I-SequenceVariant I-SequenceVariant O O O O O O O O O B-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant I-SequenceVariant O B-SequenceVariant O O O O B-ChemicalEntity B-GeneOrGeneProduct O O