Mutations in Fibrinogen alpha chain Gene (FGA) MIM +134820 | ||
NCBI Reference Sequences: | ||
Location: | 4q31.3 | |
Protein: | ACCESSION | NP_000499.1 |
mRNA: | ACCESSION | NM_000508.3 |
Genomic DNA: | ACCESSION | NC_008832 |
FGA 5’ end of exon 5 | 15 mutations associated with amyloidosis | ||||||||||||
7 substitutions, 6 deletions, 2 delins
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3 non-amyloidogenic mutations | |||||||||||||
cDNA No. |
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1564 |
ACT |
GCC |
TCA |
ACT |
GGA |
AAA |
ACA |
TTC |
CCA |
GGT |
TTC |
TTC |
TCA |
-- |
T |
A |
S |
T |
G |
K |
T |
F |
P |
G |
F |
F |
S |
- |
|||||||||||||
....A | |||||||||||||
delA |
AA... |
delTTGT/delT |
delT.. |
....delG | ....delG | T |
|||||||
1603 |
CCT |
ATG |
TTA |
GGA |
GAG |
TTT |
GTC |
AGT |
GAG |
ACT |
GAG |
TCT |
AGG |
P |
S |
S |
R |
||||||||||
- |
|||||||||||||
A |
T....... |
||||||||||||
1642 |
GGC |
TCA |
GAA |
TCT |
GGC |
ATC |
TTC |
ACA |
AAT |
ACA |
AAG |
GAA.. |
TCC |
G |
S |
E |
S |
G |
I |
F |
T |
N |
K |
S |
|||
-
|
|||||||||||||
A |
T/A |
||||||||||||
1681 |
AGT |
TCT |
CAT |
CAC |
CCT |
GGG |
ATA |
GCT |
GAA |
TTC |
CCT |
TCC |
CGT |
S |
S |
H |
H |
P |
G |
I |
A |
E |
F |
S |
|||
- |
|||||||||||||
delinsTT | |||||||||||||
1720 |
GGT |
AAA |
TCT |
TCA |
AGT |
TAC |
AGC |
AAA |
CAA |
TTT |
ACT |
AGT |
AGC |
K |
S |
S |
S |
Y |
S |
K |
Q |
F |
T |
S |
S |
||
- |
|||||||||||||
1759 |
ACG |
AGT |
TAC |
AAC |
AGA |
GGA |
GAC |
TCC |
ACA |
TTT |
GAA |
AGC |
AAG |
T |
S |
Y |
N |
R |
G |
D |
S |
T |
F |
E |
S |
K |
|