Mutations in Cystatin 3 (Cystatin C) Gene (CST3) MIM *604312 | ||
NCBI Reference Sequences: | ||
Location: | 20p11.21 | |
Protein: | ACCESSION | NP_000090.1 |
mRNA: | ACCESSION | NM_000099.3 |
Genomic DNA: | ACCESSION | NG_012887.2 |
CST3 - exons 1 to 3 | 1 mutation associated with amyloidosis |
cDNA No. |
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1 |
ATG |
GCC
|
GGG |
CCC |
CTG |
CGC |
GCC |
CCG |
CTG |
CTC |
CTG |
CTG |
GCC |
M |
A |
G |
P |
L |
R |
A |
P |
L |
L |
L |
L |
A |
|
40 |
ATC |
CTG |
GCC |
GTG |
GCC |
CTG |
GCC |
GTG |
AGC |
CCC |
GCG |
GCC |
GGC |
I |
L |
A |
V |
A |
L |
A |
V |
S |
P |
A |
A |
G |
|
79 |
TCC |
AGT |
CCC |
GGC |
AAG |
CCG |
CCG |
CGC |
CTG |
GTG |
GGA |
GGC |
CCC |
S |
S |
P |
G |
K |
P |
P |
R |
L |
V |
G |
G
|
P |
|
118 |
ATG |
GAC |
GCC |
AGC |
GTG |
GGC |
GAG |
GAG |
GGT |
GTG |
CGG |
CTG |
GCA |
M |
D |
A |
S |
V |
E |
E |
E |
G |
V |
R |
R |
A |
|
157 |
CTG |
GAC |
TTT |
GCC |
GTC |
GGC |
GAG |
TAC |
AAC |
AAA |
GCC |
AGC |
AAC |
L |
D |
F |
A |
V |
G |
E |
Y |
N |
K |
A |
S |
N |
|
196 |
GAC |
ATG |
TAC |
CAC |
AGC |
CGC |
GCG |
CTG |
CAG |
GTG |
GTG |
CGC |
GCC |
D |
M |
Y |
H |
S |
R |
A |
L |
Q |
V |
V |
R |
A |
|
235 |
CGC |
AAG |
CAG |
ATC |
GTA |
CCT |
GGG |
GTG |
AAC |
TAC |
TTC |
TTG |
GAC |
R |
K |
Q |
I |
V |
A |
G |
V |
N |
Y |
F |
L |
D |
|
A |
|||||||||||||
274 |
GTG |
GAG |
CTG |
GGC |
CGA |
ACC |
ACG |
TGT |
ACC |
AAG |
ACC |
CAG |
CCC |
V |
E |
G |
R |
T |
T |
C |
T |
K |
T |
Q |
P |
||
313 |
AAC |
TTG |
GAC |
AAC |
TGC |
CCC |
TTC |
CAT |
GAC |
CAG |
CCA |
CAT |
CTG |
N |
L |
D |
N |
C |
P |
F |
H |
D |
Q |
P |
H |
L |
|
352 |
AAA |
AGG |
AAA |
GCA |
TTC |
TGC |
TCT |
TTC |
CAG |
ATC |
TAC |
GCT |
GTG |
K |
R |
K |
A |
F |
C |
S |
F |
Q |
I |
Y |
A |
V |
|
391 |
CCT |
TGG |
CAG |
GGC |
ACA |
ATG |
ACC |
TTG |
TCG |
AAA |
TCC |
ACC |
TGT |
P |
W |
Q |
G |
T |
M |
T |
L |
S |
K |
S |
T |
C |
|
430 |
CAG |
GAC |
GCC |
TAG |
|||||||||
Q |
D |
A |
Stop |