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Table 4 List of AKAP nonsynonymous somatic mutations in cohort 2

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

Axillary lymph VAF

Metastasis 1 VAF

Metastasis 2 VAF

Patient

AKAP1

            

AKAP2

            

AKAP3

chr12:4725047

12p13.32

G > A

5/5

Ser807Leu

NA

damaging

2%

–

13%

41%, 22%a

pat 19

AKAP4

chrX:49958130

Xp11.22

A > G

5/6

Phe412Leu

NA

damaging

0%

0%

22%b

26%

pat 8

AKAP5

            

AKAP6

            

AKAP7

            

AKAP8

            

AKAP9

chr7:91630327

7q21.2

A > G

8/50

Ile366Val

close to bindning domain

tolerated

4%

–

24%, 36%a

 

pat 7

AKAP10

            

AKAP11

chr13:42875448

13q14.11

G > A

8/13

Asp856Asn

NA

tolerated

0%

–

8%

 

pat 12

AKAP12

            

AKAP13

            

AKAP14

            
  1. Tumor cell fraction was determined by a clinical pathologist using blinded sample IDs
  2. amultiple blocks from same sample
  3. blocoregional metastasis
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BMC Cancer

ISSN: 1471-2407

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