B2MCystatin

 

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
L84S
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