Mutations in Lysozyme Gene (LYZ) MIM *153450 | ||
NCBI Reference Sequences: | ||
Location: | 12q15 | |
Protein: | ACCESSION | NP_000230.1 |
mRNA: | ACCESSION | NM_000239.2 |
Genomic DNA: | ACCESSION | NG_008195 |
8 Mutations associated with amyloidosis | ||
LYZ exon 2 | 1 non-amyloidogenic mutation |
cDNA No.
|
|||||||||||
136 |
TGG |
ATG |
TGT |
TTG |
GCC |
AAA |
TGG |
GAG |
AGT |
GGT |
TAC |
W |
M |
C |
L |
A |
K |
W |
E |
S |
G |
Y |
|
- |
|||||||||||
169 |
AAC |
ACA |
CGA |
GCT |
ACA |
AAC |
TAC |
AAT |
GCT |
GGA |
GAC |
N |
T |
R |
A |
T |
N |
Y |
N |
A |
G |
D |
|
- |
|||||||||||
A..... |
C |
A.... |
|||||||||
202 |
AGA |
AGC |
ACT |
GAT |
TAT |
GGG |
ATA |
TTT |
CAG |
ATC |
AAT |
R |
S |
T |
D |
G |
Q |
I |
N |
||||
- |
|||||||||||
A..... |
|||||||||||
C..... |
CG... |
A |
|||||||||
235 |
AGC |
CGC |
TAC |
TGG |
TGT |
AAT |
GAT |
GGC |
AAA |
ACC |
CCA |
S |
R |
Y |
C |
N |
G |
K |
P |
||||
- |
|||||||||||
268 |
GGA |
GCA |
GTT |
AAT |
GCC |
TGT |
CAT |
TTA |
TCC |
TGC |
AGT |
G |
A |
V |
N |
A |
C |
H |
L |
S |
C |
S |
|
- |
|||||||||||
LYZ exon 3 | |||||||||||
- | |||||||||||
..C.. |
. |
||||||||||
301 |
GCT |
TTG |
CTG |
CAA |
GAT |
AAC |
ATC |
GCT |
GAT |
GCT |
GTA |
A |
L |
Q |
D |
N |
I |
A |
D |
A |
V |
||
- |
|||||||||||
334 |
GCT |
TGT |
GCA |
AAG |
AGG |
GTT |
GTC |
CGT |
GAT |
CCA |
CAA |
A |
C |
A |
K |
R |
V |
V |
R |
D |
P |
Q |
|
- |
|||||||||||
367 |
GGC |
ATT |
AGA |
GCA |
TGG |
||||||
G |
I |
R |
A |
W |
|||||||
LYZ exon 4 | |||||||||||
- | |||||||||||
C.... |
|||||||||||
382 |
GTG |
GCA |
TGG |
AGA |
AAT |
CGT |
TGT |
CAA |
AAC |
AGA |
GAT |
V |
A |
R |
N |
R |
C |
Q |
N |
R |
D |
||
- |
|||||||||||
415 |
GTC |
CGT |
CAG |
TAT |
GTT |
CAA |
GGT |
TGT |
GGA |
GTG |
TAA |
V |
R |
Q |
Y |
V |
Q |
G |
C |
G |
V |
STOP |
|