The molecular lesion is a T-to-A missense mutation (236T>A) in codon 79 in exon 2. This is predicted to alter amino acid 79 from an isoleucine to an asparagine (Ile79Asn) in the encoded protein. (J:237905)
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The molecular lesion is a T-to-A missense mutation (236T>A) in codon 79 in exon 2. This is predicted to alter amino acid 79 from an isoleucine to an asparagine (Ile79Asn) in the encoded protein. (J:237905)