Table 3.
List of AKAP nonsynonymous somatic mutations in cohort 1
| Gene | Position | CytoBand | Mutation | Exon | A.A substitution | Protein region | SIFT Prediction | Primary VAF | Metastasis VAF | Patient |
|---|---|---|---|---|---|---|---|---|---|---|
| AKAP1 | ||||||||||
| AKAP2 | ||||||||||
| AKAP3 | ||||||||||
| AKAP4 | ||||||||||
| AKAP5 | chr14:64935761 | 14q23 | G > A | 2/2 | Asp217Asn | NA | damaging | 5.2% | 0% | P2 |
| AKAP6 | chr14:33293693 | 14q12 | G > A | 13/14 | Gly2225Glu | NA | tolerated | 0% | 17% | P1 |
| AKAP7 | ||||||||||
| AKAP8 | chr19:15484018 | 19q13.12 | G > A | 1/11 | Gln169X | MCM2 binding domain | nonsense | 0% | 15% | P4 |
| AKAP9 | chr7:91708964 | 7q21.2 | G > A | 31/50 | Ser2518Asn | close to PKA-R domain | tolerated | 0% | 9% | P1 |
| AKAP10 | chr17:19861659 | 17p11.2 | A > G | 4/15 | Leu182Pro | RGS1 binding domain | damaging | 0% | 16% | P1 |
| AKAP11 | ||||||||||
| AKAP12 | chr6:151670403 chr6:151671474 |
6q25.1 | G > A G > A |
4/5 4/5 |
Gly293Arg Ala650Thr |
EGFR interaction domain EGFR interaction domain |
damaging damaging |
0% 0% |
22% 15% |
P5 P10 |
| AKAP13 | chr15:86124141 chr15:86122728 |
15q25.3 | C > T G > A |
7/15 7/15 |
Gln948X Asp477Asn |
NA close to PKA-RII domain |
nonsense damaging |
0% 0% |
10% 16% |
P4 P5 |
| AKAP14 |
VAF variant allele frequency; Protein region: Approximate relation to functional domains (see Fig. 2 for details). No tumor cell fraction was available for cohort 1. SIFT prediction