TTR FGA APOA1 APOA2 LYZ GSN B2M CystatinHome Back

 

Mutations in Apolipoprotein A-I Gene (APOA1) MIM +107680

 
NCBI Reference Sequences:
 
Location: 11q23.3  
Protein: ACCESSION NP_000030.1
mRNA: ACCESSION NM_000039.1
Genomic DNA: ACCESSION NG_012021
 
AApoA1 exon 3 Mutations associated with amyloidosis shown in red
  Non-amyloidogenic mutations shown in green
 
cDNA No.
43
GGG
AGC
CAG
GCT
CGG
CAT
TTC
TGG
CAG
CAA
GAT
G
S
Q
A
R
H
F
W
Q
Q
D
-
76
GAA
CCC
CCC
CAG
AGC
CCC
TGG
GAT
CGA
GTG
AAG
E
P
P
Q
S
P
W
D
R
V
K
-
109
GAC
CTG
GCC
ACT
GTG
TAC
GTG
GAT
GTG
CTC
AAA
D
L
A
T
V
Y
V
D
V
L
K
-
C.......
A.......
142
GAC
AGC
GGC..
AGA
GAC
TAT
GTG
TCC
CAG
TTT
GAA..
D
S
R
D
Y
V
S
Q
F
-
 
T..
G.......
                 
175
GGC
TCC..
GCC
TTG
GGA
AAA
CAG
CTA
AAG
A
L
G
K
Q
L
K
-                      
ApoA1 exon 4  
         
-                    
A........
             
C........
       
202
CTA
AAG
CTC
CTT
GAC
AAC
TGG....
GAC
AGC
GTG
ACC
L
K
L
L
D
N
D
S
V
T
-
G
C
235
TCC
ACC
TTC
AGC
AAG
CTG
CGC
GAA
CAG
CTC
GGC
S
T
F
S
K
R
E
Q
G
-
A
insA
C
268
CCT
GTG
ACC
CAG
GAG
TTC
TGG
GAT
AAC
CTG
GAA
P
V
T
Q
E
W
D
E
-
 
301
AAG
GAG
ACA
GAG
GGC
CTG
AGG
CAG
GAG
ATG
AGC
K
E
T
E
G
L
R
Q
E
M
S
-
C
334
AAG
GAT
CTG
GAG
GAG
GTG
AAG
GCC
AAG
GTG
CAG
K
D
E
E
V
K
A
K
V
Q
-
367
CCC
TAC
CTG
GAC
GAC
TTC
CAG
AAG
AAG
TGG
CAG
P
Y
L
D
D
F
Q
K
W
Q
-
400
GAG
GAG
ATG
GAG
CTC
TAC
CGC
CAG
AAG
GTG
GAG
E
E
M
E
L
Y
R
Q
K
V
E
-
433
CCG
CTG
CGC
GCA
GAG
CTC
CAA
GAG
GGC
GCG
CGC
P
L
R
A
E
L
Q
E
G
A
R
-
466
CAG
AAG
CTG
CAC
GAG
CTG
CAA
GAG
AAG
CTG
AGC
Q
K
L
H
E
L
Q
E
K
L
S
-
499
CCA
CTG
GGC
GAG
GAG
ATG
CGC
GAC
CGC
GCG
CGC
P
L
G
E
E
M
R
D
R
A
R
-

dupGC

del C
T .....
532
GCC
CAT
GTG
GAC
GCG
CTG
CGC
ACG
CAT
CTG
GCC
V
D
A
L
R
T
H
L
-
C
delinsCC
C
C
C.......
565
CCC
TAC
AGC
GAC
GAG
CTG
CGC
CAG
CGC
TTG
GCC..
P
Y
S
D
E
R
-
A
598
GCG
CGC
C T T
GAG
GCT
CTC
AAG
GAG
AAC
GGC
GGC
A
R
E
A
L
K
E
N
G
G
-
631
GCC
AGA
CTG
GCC
GAG
TAC
CAC
GCC
AAG
GCC
ACC
A
R
L
A
E
Y
H
A
K
A
T
-
664
GAG
CAT
CTG
AGC
ACG
CTC
AGC
GAG
AAG
GCC
AAG
E
H
L
S
T
L
S
E
K
A
K
-
697
CCC
GCG
CTC
GAG
GAC
CTC
CGC
CAA
GGC
CTG
CTG
P
A
L
E
D
L
R
Q
G
L
L
-
730
CCC
GTG
CTG
GAG
AGC
TTC
AAG
GTC
AGC
TTC
CTG
P
V
L
E
F
K
V
S
F
L
L
-
763
AGC
GCT
CTC
GAG
GAG
TAC
ACT
AAG
AAG
CTC
AAC
S
A
L
E
E
Y
T
K
K
L
N
-
796
ACC
CAG
TGA
T
Q
STOP