Для Тимоти характерны только эти три мутации (выделено мной):
All individuals with Timothy syndrome reported to date have had one of three missense mutations in CACNA1C.
A point mutation in exon 8A causes a glycine to arginine substitution at amino acid position 406 (G406R).
An alternative transcript of the CACNA1C gene contains 2 mutations associated with atypical Timothy syndrome. Both are in exon 8. One causes the same amino acid substitution as in classic Timothy syndrome (G406R), and one causes a glycine to serine substitution at amino acid position 402 (G402S).
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