The molecular lesion is a T-to-A missense mutation (240T-A) in codon 80 in exon 5. This is predicted to alter amino acid 80 from an arginine to a serine (R80S) in the encoded protein. (J:237905)
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The molecular lesion is a T-to-A missense mutation (240T-A) in codon 80 in exon 5. This is predicted to alter amino acid 80 from an arginine to a serine (R80S) in the encoded protein. (J:237905)