From: Aberrations of TACC1 and TACC3 are associated with ovarian cancer
Exon | Codon Change | Nucleotide changea | Effectb | Change in amino acid/protein property | Remarks |
---|---|---|---|---|---|
3 | TCA>TTA | c.278C>T | Ser93Leu | Hydrophilic to hydrophobic | In proband (ovarian cancer), and mother (uterine cancer); not in two unaffected sisters. |
4 | GAG> AAG | c.427G>A | Glu143Lys | Acidic to basic | Polymorphism |
4 | AGC>AGT | c.531C>T | Ser177Ser | Silent | Polymorphism |
4 | c.673_708del AAAGCGGAGACTCCGCACG GAGCCGAGGAAGAATGC | Lys225_Cys236del | Removal of one 12 amino acid repeat | Polymorphism | |
4 | GGC>GGG | c.1086C>G | Gly362Gly | Silent | Polymorphism |
4 | Ccg>Ctg | c.1250C>T | Pro417Leu | Potential tertiary structure change | Polymorphism |
5 | GCG>GTG | c.1406C>T | Ala469Val | Â | Polymorphism |
6 | GGG>GAG | c.1541G>A | Gly514Glu | Small hydrophobic to acidic | Only in affected sibling, not in unaffected sister or daughter. |
9 | TTC>TTT | c.1809T>C | Phe603Leu | Aromatic to aliphatic | Polymorphism |
11 | CAC>CAT | c.1998C>T | His666His | Silent | Polymorphism |
16 | Â | c.2621T>A | Â | Â | 3' untranslated region. Polymorphism |