B2M Cystatin

 

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 10 mutations associated with amyloidosis
6 substitutions, 3 deletions, 1 delins
  2 non-amyloidogenic mutations
cDNA No.
                       
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
AA...
delTTGT
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
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