The molecular lesion is a T-to-C missense mutation (257T-C) in codon 86 in exon 4. This is predicted to alter amino acid 86 from a leucine to a proline (L86P) in the encoded protein. (J:237905)
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The molecular lesion is a T-to-C missense mutation (257T-C) in codon 86 in exon 4. This is predicted to alter amino acid 86 from a leucine to a proline (L86P) in the encoded protein. (J:237905)