The molecular lesion is a C-to-T missense mutation (2284C-T) in codon 762 in exon 15. This is predicted to alter amino acid 762 from a histidine to a tyrosine (H762Y) in the encoded protein. (J:237905)
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The molecular lesion is a C-to-T missense mutation (2284C-T) in codon 762 in exon 15. This is predicted to alter amino acid 762 from a histidine to a tyrosine (H762Y) in the encoded protein. (J:237905)