Skip to main content

Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Table 4 Overview of BRCA1 mutation type and association with nonsense-mediated decay

From: Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific

Study ID Age BRCA1 mutation Mutation type Exon aNonsense-mediated decay (NMD)
1 33 Deletion Exon 1-2 FS 1–2 Unknown
2 54 185delAG FS 2 -
3 31 185delAG FS 2 -
4 27 185delAG FS 2 -
5 36 185delAG FS 2 -
6 58 185delAG FS 2 -
7 58 185delAG FS 2 -
8 44 185delAG FS 2 -
9 50 185delAG FS 2 -
10 35 Deletion Exon 4-6 FS 4–6 Unknown
11 54 2190delA FS 11 +
12 60 1293del40 FS 11 +
13 33 3748G > T NS 10 +
14 51 1293del40 FS 11 +
15 33 5382insC FS 20 -
16 38 5382insC FS 20 -
17 62 5382insC FS 20 -
18 52 5382insC FS 20 -
19 35 5382insC FS 20 -
20 38 5382insC FS 20 -
21 41 UI    
22 37 UI    
  1. aNonsense-mediated decay (NMD) status was based on experimental investigations by Liu et al. and Perrin-Vidoz et al. [4446] and other reports [1928]. UI mutation is unidentified, FS frameshift mutation, NS Nonsense mutation, NMD (+) nonsense-mediated decay is present, NMD (-) nonsense-mediated decay is absent, NMD (Unknown) functional contribution of NMD to mRNA expression levels in these mutations remains to be explored