|
CELL LINE
|
EXON 12
|
EXON 18
|
|---|
| |
localization
|
change
|
position
|
amino acid
|
localization
|
change
|
position
|
amino acid
|
|
ViBo
|
Exon
|
G>A CCA >CCG
|
Codon 567
|
Pro > Pro
|
Intron
|
C >G
|
IVS18 +21
|
---
|
|
Exon
|
G>A CCA >CCG
|
Codon 577
|
Pro > Pro
|
Intron
|
A >G
|
IVS18 +25
|
---
|
|
Exon
|
A>G TCA >TCG
|
Codon 584
|
Ser > Ser
|
-----
|
|
Intron
|
A> G
|
IVS12 +17
|
----
|
-----
|
|
Intron
|
T> C
|
IVS12 +35
|
----
|
-----
|
|
ViPa
|
WT
|
Exon
|
C >T GTC>GTT
|
Codon 824
|
Val > Val
|
|
HeLa
|
WT
|
Exon
|
C >T GTC>GTT
|
Codon 824
|
Val > Val
|
|
CaLo
|
WT
|
Exon
|
C >T GTC>GTT
|
Codon 824
|
Val > Val
|
|
INBL
|
WT
|
Exon
|
C >T GTC>GTT
|
Codon 824
|
Val > Val
|
|
C33
|
Exon
|
G >A GAA>AAA
|
Codon 571
|
Glu > Lys
|
WT
|
|
Caski
|
Exon
|
G >A GAA>AAA
|
Codon 571
|
Glu > Lys
|
WT
|
|
SiHa
|
Exon
|
G >A GAA>AAA
|
Codon 571
|
Glu > Lys
|
WT
|
- WT: wild type; IVS: intronic variation sequence. We found 7 intronic and 5 exonic variations sequences [RefSeq accession D50017]. None of the intronic variations have been reported: for exon 12 we found, A >G IVS12+17 and T >C IVS12+35, and for exon 18, C >G IVS18+21 and A >G IVS18+25. The exonic changes were: G >A in codon 567 CCA >CCG, Pro>Pro [rs1873778] synonimous; G>A codon 577 CCA >CCG, Pro >Pro (unknown) synonimous; C >T in codon 824 GTC >GTT, Val >Val [rs10015469] synonimous; G >A codon 571 CCA >CCG, Glu > Lys (unknown) not deleterious; and A >G in codon 584 CCA >CCG, Ser > Ser (unknown) synonimous.
