Antigenic and Genotypic Similarity between Primary Glioblastomas and Their Derived Neurospheres
Table 5
Spectrum of the identified sequence variations.
Gene
CDS variation
AA variation
Location
refSNP ID
Function
Number of heterozygous patients
TP53
IVS3−29C>A
p.?
IVS3
rs17883323
1
c.215G>C
p.R72P
Exon 4
rs1042522
Functional polymorphism
6
IVS4+5G>C
p.?
IVS4
de novo
Splice variant
1
c.388C>A
p.L130I
Exon 5
de novo
Missense
1
c.473G>T
p.R158L
Exon 5
Missense
1
c.527G>A
p.C176Y
Exon 5
Missense
1
c.639A>G
p.R213R
Exon 6
rs1800372
Nonsense
2
IVS6+31A>G
p.?
IVS6
rs34949160
No splice variant
3
IVS6+62G>A
p.?
IVS6
rs1625895
No splice variant
7
IVS6−36G>C
p.?
IVS6
rs17880604
No splice variant
1
c.713G>A
p.C238Y
Exon 7
Missense
1
IVS7−35A>G
p.?
IVS7
de novo
No splice variant
1
c.817C>T
p.R273C
Exon 8
rs1625895
Missense
2
c.832C>T
p.P278S
Exon 8
Missense
1
PTEN
c.170_171insT
p.L57fs*5
Exon 3
Frame-shift and stop codon
1
IVS3+1G>T
p.?
IVS3
No splice variant
c.328C>T
p.Q110*
Exon 5
Stop codon
1
c.371G>A
p.C124Y
Exon 5
de novo
Missense
1
c.388C>T
p.R130*
Exon 5
Stop codon
1
c.395G>A
p.G132D
Exon 5
Missense
1
c.538T>C
p.Y180H
Exon 6
de novo
Missense
1
c.541delC
p.L181fs*1
Exon 6
de novo
Frame-shift and stop codon
1
IVS6+2T>G
p.?
IVS6
de novo
Splice variant
1
c.754G>A
p.D252N
Exon 7
de novo
Missense
1
IVS8+32T>G
p.?
IVS8
rs555895
No splice variant
8
c.954_957delTACT
p.L318fs*2
Exon 8
Frame-shift and stop codon
1
c.1061C>T
p.P354L
Exon 9
Missense
1
EGFR
IVS18+19G>A
p.?
IVS18
rs17337107
4
IVS18+100C>T
p.?
IVS18
rs17290336
2
IVS19−60T>C
p.?
IVS19
rs10241451
5
c.2361A>G
p.Q787Q
Exon 20
rs1050171
Nonsense
11
c.2508C>T
p.R836R
Exon 21
rs17290559
Nonsense
1
c.2709C>T
p.T903T
Exon 23
rs1140475
Nonsense
6
c.2904C>T
p.F968F
Exon 24
de novo
Nonsense
1
The numbering of intronic variations is relative to the first (+) or the last (−1) nucleotide of the corresponding intron. Previously reported as somatic mutation in gliomas or glioma cell lines at the International Agency for Research on Cancer (http://www-p53.iarc.fr/). Previously reported in gliomas or glioma cell lines in the Catalogue of Somatic Mutations in Cancer (http://www.sanger.ac.uk/genetics/CGP/cosmic/). Variations identified de novo in gliomas in the present study. Already present in the patient’s constitutive DNA.
