Table 1 Characteristics of TP53 splice mutations and corresponding transcript variants

From: Transcriptional and functional consequences of TP53 splice mutations in colorectal cancer

Sample no.a

TP53 splice mutation

c_descriptionb

Aberrant transcript variant(s)

Disturbed reading frame

Premature stop codon

Predicted protein product

1

Exon 3+1 (SD), G >A

c.96+1 G>A

Exon 3 skipping

Yes

Yes

Truncated

2

Exon 5–1 (SA), G >A

c.376–1 G>A

Cryptic SA exon 5

No

No

Loss of 7 AAs 5′ exon 5

3

Exon 7+1 (SD), G >A

c.782+1 G>A

Intron 7 retention

Yes

Yes

Truncated

4

Exon 5–1 (SA), G >A

c.376–1 G>A

Cryptic SA exon 5

No

No

Loss of 7 AAs 5′ exon 5

5

Exon 9–2 (SA), A >G

c.920–2 A>G

(I) Intron 8 retention

(II) Exon 9 skipping

(I) No

(II) Yes

(I) Yes

(II) Yes

(I) Truncated

(II) Truncated

6

Exon 8+1 (SD), G >A

c.919+1 G>A

(I) Intron 8 retention

(II) Exon 8 skipping

(I) No

(II) Yes

(I) Yes

(II) Yes

(I) Truncated

(II) Truncated

7

Exon 5–1 (SA), G>T

c.376–1 G>T

Cryptic SA exon 5

No

No

Loss of 7 AAs 5′ exon 5

8

Exon 8–1 (SA), G >T

c.783–1 G>T

(I) Intron 7 retention

(II) Cryptic SA exon 8

(I) Yes

(II) Yes

(I) Yes

(II) No

(I) Truncated

(II) Loss of 9 AA 5′ exon 8, disturbed reading frame

9

Exon 4+5, G >A

c.375+5 G>A

Intron 4 retention

No

Yes

Truncated

10

Exon 7–2 (SA), A >T

c.673–2 A>T

(I) Intron 6 retention

No

Yes

Truncated

   

(II) Cryptic SA intron 6

Yes

Yes

Truncated

11

Exon 5+1 (SD), G >A

c.559+1 G>A

(I) Intron 5 retention

(II) Cryptic SD exon 5

(I) Yes

(II) Yes

(I) Yes

(II) Yes

(I) Truncated

(II) Truncated

12

Exon 6–1 (SA), G >A

c.560–1 G>A

(I) Intron 5 retention

(II) Exon 6 skipping

(I) Yes

(II) Yes

(I) Yes

(II) Yes

(I) Truncated

(II) Truncated

13

Exon 5+1 (SD), del G

c.559+1del1

Not present

N/A

N/A

Full length

14

Exon 6–9 (SA), del 14 bp

c.560–9_564del14

Not present

N/A

N/A

Full length

15

Exon 7+3, ins 6 bp

c.782+3_782+4ins6

Not present

N/A

N/A

Full length

16

Exon 8–2 (SA), A>G

c.783–2 A>G

Not present

N/A

N/A

Full length

  1. SD consensus splice donor site, SA consensus splice acceptor site, AA amino acid
  2. aSamples ordered according to estimated relative expression level of canonical transcripts, as shown in Fig. 2a
  3. bMutations are described according to the Human Genome Variation Society (HGVS) nomenclature and using the NM_000546.4 coding sequence as reference
Back to article page