TTR FGA APOA1 APOA2 LYZ GSN B2M CystatinHome Back

 

Mutations in Transthyretin Gene (TTR) MIM *176300
 
NCBI Reference Sequences:
 
Location: 18q12.1  
Protein: ACCESSION NP_000362.1
mRNA: ACCESSION NM_000371.3
Genomic DNA: ACCESSION NG_009490
 
TTR exon 1
  Mutations associated with amyloidosis shown in red
  Non-amyloidogenic mutations shown in green
 
cDNA No.
-
1
ATG
GCT
TCT
CAT
CGT
CTG
CTC
CTC
CTC
TGC
CTT
M
A
S
H
R
L
L
L
L
C
L
-
33
GCT
GGA
CTG
GTA
TTT
GTG
TCT
GAG
GCT
GGC
CCT
A
G
L
V
F
V
S
E
A
G
P
-
67
ACG
T
-
TTR exon 2  
       
-              
A....
C......
C
.....C
70
GGC
ACC
GGT
GAA
TCC
AAG
TGT..
CCT
CTG
ATG
GTC
G
T
E
S
K
P
V
-
AGA/G
A
A....
A
T......
T......
103
AAA
GTT
CTA
GAT
GCT
GTC
CGA
GGC
AGT
CCT.
G CC
K
V
L
R
G
-
C/G
G/A..........
A......
A/C
C/G
C/G.....
GC...
.....C/T
C.......
136
ATC
AAT
GTG..
GCC
GTG
CAT
GTG
TTC
AGA
AAG
GCT .
N
A
H
-
TA.....
A A...
A/T
T
T
..GC
CC/A
/A/G....
/C C/T
169
GCT
GAT
GAC
ACC
TGG
GAG
CCA
TTT
GCC
TCT
GG G
A
T
P
S
--
 
TTR exon 3    
         
     
G G...
AGT
A
/C/T....
..TG
G
C......
C/A
C/T/T/C
G/C
G
.A/G
202
AAA
ACC
AGT
GAG
TCT..
GGA
GAG
CTG
CAT
GGG
CTC
K
G
-
C .....
A
G....
AG ..
A
CC ..
A
C/T .......
/AT ...
235
ACA
ACT
GAG
GAG
GAA
TTT
GTA
GAA
GGG
ATA
TAC
E
V
E
-
.......T/C
C
G
G.....
C.......
A/T
T
268
AAA
GTG
GAA
ATA
GAC..
ACC
AAA
TCT
TAC
TGG
AAG
T
K
W
K
-
C/
AT...
C
G/A
A/C..
G/A ..
T .....
301
GCA
CTT
GGC
ATC
TCC
CCA
TTC
CAT
GAG
CAT
GCA
L
S
P
F
H
-
A.....
334
GAG
-
                   
TTR exon 4      
           
           
A......
C
TG.....
A........
G
A.........
367
GTG..
GTA
TTC
ACA
GCC
AAC
GAC
TCC
GGC....
CCC
CGC....
F
T
N
D
S
-
TA...
T/G G
.....T
A/TT..
A......
T
CG ...
400
CGC
TAC
ACC
ATT
GCC
GCC
CTG
CTG..
AGC
CCC
TAC
Y
T
L
P
-
C
T
T....
AC...
T.........
433
TCC
TAT
TCC
ACC
ACG
GCT
GTC
GTC
ACC
AAT
CCC....
S
S
T
V
T
N
-
466
AAG
GAA
TGA
K
E
STOP