B2MCystatin

 

Mutations in Beta-2-microglobulin Gene (B2M) MIM * 109700
 
NCBI Reference Sequences:
 
Location: 15q21.1  
Protein: ACCESSION NP_004039.1
mRNA: ACCESSION NM_004048.2
Genomic DNA: ACCESSION NC_000015
 
B2M exon 2 1 mutation associated with amyloidosis
 
cDNA No.
 
67
CGT
ACT
CCA
AAG
ATT
CAG
GTT
TAC
TCA
CGT
CAT
CCA
GCA
R
T
P
K
I
Q
V
Y
S
R
H
P
A
106
GAG
AAT
GGA
AAG
TCA
AAT
TTC
CTG
AAT
TGC
TAT
GTG
TCT
E
V
G
K
S
N 
F
L
N
C
Y
V
S
145
GGG
TTT
CAT
CCA
TCC
GAC
ATT
GAA
GTT 
GAC
TTA
CTG
AAG
G
F
H
P
S
D
I
E
V
D
L
L
K
186
AAT 
GGA
GAG
AGA
ATT
GAA
AAA
GTG
GAG
CAT
TXA
GAC
TTG
N
G
E
R
I
E
K
V
E
H
S
D
L
223
TCT
TTC
AGC
AAG
GAC
TGG
TCT
TTC
TAT
CTC
TTG
TAC
TAC
S
F
S
K
D
W
S
F
Y
L
L
Y
A ....
262
ACT
GAA
TTC
ACC
CCC
ACT
GAA
AAA
GAT
GAG
TAT
GCC
TGC
T
E
F
T
P
T
E
K
E
Y
A
C
301
CGT
GTG
AAC
CAT
GTG
ACT
TTG
TCA
CAG
CCC
AAG
ATA
GTT
R
V
N
H
V
T
L
S
Q
P
K
I
V
340
AAG
TGG
K
W