Table 4.
Exon | Codon | Amino Acid (wild type→mutant) | Phenotype | Frequency (%), MEN2 cases |
---|---|---|---|---|
8 | 532,533,534 | Ins-Glu-Glu-Cys | FMTC | Rare |
533 | Gly-Cys | FMTC | ||
| ||||
10 | 609 | Cys-Arg | MEN 2A/FMTC | 0–1 |
Cys-Gly | ||||
Cys-Tyr | ||||
611 | Cys-Ser | MEN 2A/FMTC | 2–3 | |
Cys-Arg | ||||
Cys-Tyr | ||||
Cys-Phe | ||||
Cys-Trp | ||||
618 | Cys-Ser | MEN 2A/FMTC | 3–5 | |
Cys-Arg | ||||
Cys-Gly | ||||
Cys-Tyr | ||||
Cys-Ser | ||||
620 | Cys-Phe | MEN 2A/FMTC | 6–8 | |
Cys-Ser | ||||
Cys-Arg | ||||
Cys-Gly | ||||
Cys-Tyr | ||||
Cys-Trp | ||||
| ||||
11 | 630 | Cys-Tyr | MEN 2A/FMTC | 0–1 |
Cys-Ser | ||||
Cys-Phe | ||||
634 | Cys-Ser | MEN 2A | 80–90 | |
Cys-Arg | ||||
Cys-Gly | ||||
Cys-Tyr | MEN 2A/FMTC | |||
Cys-Ser | MEN 2A/FMTC | 80–90 | ||
Cys-Phe | ||||
Cys-Trp | ||||
635,636,637,638 | Ins-Thr-Ser-Cys-Ala | MEN 2A/FMTC | Rare | |
637-638-639 | Ins-Cys-Arg-Thr | MEN 2A | ||
648 | Val-Ile | MEN 2A | ||
| ||||
13 | 768 | Glu-Asp | MEN 2A/FMTC | Rare |
790 | Leu-Phe | |||
791 | Tyr-Phe | |||
| ||||
14 | 804 | Val-Met | MEN 2A/FMTC | 0–1 |
Val-Leu | ||||
| ||||
15 | 883 | Ala-Phe | MEN 2B | Rare |
891 | Ser-Ala | MEN 2A/FMTC | ||
| ||||
16 | 918 | Met-Thr | MEN 2B | 3–5 |
922 | Ser-Tyr | MEN 2B | Rare |
Adapted from “Management of Medullary Thyroid Cancer” in The Handbook of Endocrine Surgery (RS Sippel, and H Chen, eds.)