Table 2.
List of Somatic Mutations Identified in White American APAs
| Amino Acid Substitutions | APAs From Men (n = 45) | APAs From Women (n = 30) |
|---|---|---|
| KCNJ5 gene | 11 (24%) | 21 (70%) |
| p.G151R | 6 | 8 |
| p.L168R | 2 | 11 |
| p.E145Q | 2 | 0 |
| p.[F140L;G151R]a | 0 | 1 |
| p.T149delinsTIa | 1 | 0 |
| p.G151_Y152del | 0 | 1 |
| ATP1A1 gene | 10 (22%) | 3 (10%) |
| p.L104R | 7 | 3 |
| p.M102_L103del | 1 | 0 |
| p.V332G | 1 | 0 |
| p.E960_L964delinsAVa | 1 | 0 |
| ATP2B3 gene | 3 (7%) | 0 |
| p.V424_L425del | 2 | 0 |
| p.V422_L425delinsITa | 1 | 0 |
| CACNA1D gene | 15 (33%) | 1 (3%) |
| p.V259Ga | 2 | 0 |
| p.V259D | 1 | 0 |
| p.G403R | 3 | 0 |
| p.F747V | 1 | 0 |
| p.F747L | 1 | 0 |
| p.I750M | 2 | 0 |
| p.R990H | 1 | 1 |
| p.A998V | 1 | 0 |
| p.V1151F | 2 | 0 |
| p.V1338M | 1 | 0 |
| CTNNB1 gene | 0 | 2 (7%) |
| p.S45F | 0 | 2 |
| Mutation negative | 6 (13%) | 3 (10%) |
Numbers of APA-harboring corresponding mutations are listed.
a
Indicates previously unreported mutation. The following reference sequences were used for determining amino acid changes: NM_000890 (KCNJ5), NM_000701 (ATP1A1), NM_021949 (ATP2B3), NM_001128839 (CACNA1D), and NM_001904 (CTNNB1).