Skip to main content

Advertisement

Springer Nature is making Coronavirus research free. View research | View latest news | Sign up for updates

Table 3 List of AKAP nonsynonymous somatic mutations in cohort 1

From: Exome sequencing of primary breast cancers with paired metastatic lesions reveals metastasis-enriched mutations in the A-kinase anchoring protein family (AKAPs)

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           
  1. 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