Mutations at homologous positions to ABCC2 p.Leu480
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
| 
	 SNAP2 PROVEAN Effect_dbs  | 
    ||
|---|---|---|
| ABCC2 | 
	 p.Leu480Phe 
	    
	     | 
	
	     D 
	    D 
	    ? 
	     | 
  
| ABCC1 | 
	 p.Met483Val 
	    
	     | 
	
	     N 
	    N 
	    ? 
	     | 
  
Mutations +/- 5 a.a. around the position:
| ABCC2 | 
	 p.Lys483Ala 
	    
	     | 
	
	     D 
	    D 
	    ? 
	     | 
  
| ABCC1 | 
	 p.Pro478Ala 
	    
	    p.Val479Leu 
	    
	    p.Ala481Gly 
	    
	    p.Val482Ala 
	    
	    p.Met485Val 
	    
	    p.Thr487Met 
	    
	    p.Lys488Arg 
	    
	     | 
	
	     N 
	    D 
	    ? 
	    N 
	    N 
	    ? 
	    N 
	    N 
	    ? 
	    N 
	    N 
	    ? 
	    N 
	    N 
	    ? 
	    N 
	    N 
	    ? 
	    N 
	    N 
	    ? 
	     | 
  
| ABCC5 | 
	 p.Phe335Cys 
	    
	    p.Ser337Cys 
	    
	    p.Leu339Cys 
	    
	     | 
	
	     N 
	    D 
	    ? 
	    D 
	    D 
	    ? 
	    N 
	    D 
	    ? 
	     | 
  
| ABCC6 | 
	 p.Asn466Tyr 
	    
	     | 
	
	     D 
	    D 
	    D 
	     | 
  
| ABCC7 | 
	 p.Phe236Asp 
	    
	    p.Phe236Arg 
	    
	    p.Gln237Ala 
	    
	    p.Gln237Glu 
	    
	    p.Gln237Leu 
	    
	    p.Gln237Asp 
	    
	    p.Ala238Val 
	    
	    p.Ala238Asp 
	    
	    p.Gly239Asp 
	    
	    p.Gly239Arg 
	    
	    p.Gly241Arg 
	    
	    p.Gly241Asp 
	    
	    p.Arg242Glu 
	    
	    p.Met244Lys 
	    
	     | 
	
	     D 
	    D 
	    ? 
	    D 
	    D 
	    ? 
	    D 
	    D 
	    ? 
	    D 
	    N 
	    
	    D 
	    D 
	    ? 
	    D 
	    N 
	    ? 
	    D 
	    D 
	    
	    D 
	    D 
	    ? 
	    D 
	    N 
	    ? 
	    N 
	    N 
	    
	    D 
	    N 
	    
	    D 
	    N 
	    ? 
	    D 
	    N 
	    ? 
	    D 
	    D 
	    
	     | 
  
| ABCC8 | 
	 p.Gln474Arg 
	    
	    p.Ala478Asp 
	    
	    p.Ala478Pro 
	    
	    p.Ala478Val 
	    
	     | 
	
	     D 
	    D 
	    ? 
	    D 
	    D 
	    ? 
	    D 
	    D 
	    ? 
	    D 
	    D 
	    ? 
	     | 
  
| ABCC9 | 
	 p.Ala478Val 
	    
	     | 
	
	     N 
	    D 
	    D 
	     | 
  
The alignment around the queried position:
ABCC2 441
W
S
S
V
L
Q
V
L
S
I
F
F
L
W
R
E
L
P
S
V
L
A
G
V
G
V
M
L
V
I
P
I
N
A
I
S
T
S
K
I
Q
V
K
N
M
K
N
D
K
R
L
K
I
M
N
E
I
L
S
G
I
K
I
L
K
Y
F
W
E
P
S
    
        520
        ABCC1 444
I
S
A
L
Q
V
I
L
L
Y
L
L
L
N
L
G
S
V
L
A
G
V
A
V
M
V
L
M
V
N
A
K
Q
V
M
K
D
I
L
M
I
L
N
I
V
L
L
Y
A
W
L
A
    
        523
        ABCC3 430
L
W
S
A
P
L
Q
I
I
L
A
I
Y
F
L
W
Q
N
L
G
S
V
L
A
G
V
A
F
M
V
L
L
I
P
L
N
G
A
V
A
V
K
M
R
A
F
Q
V
K
Q
M
K
L
K
D
S
R
I
K
L
M
S
E
I
L
N
G
I
K
V
L
K
L
Y
A
W
E
P
S
    
        509
        ABCC4 215
L
W
A
G
P
L
Q
A
I
A
V
T
A
L
L
W
M
E
I
G
I
S
C
L
A
G
M
A
V
L
I
I
L
L
P
L
Q
S
C
F
G
K
L
F
S
S
L
S
K
T
A
T
F
T
D
A
R
I
R
T
M
N
E
V
I
T
G
I
R
I
I
K
M
Y
A
W
E
S
    
        294
        ABCC5 297
L
A
G
G
P
V
V
A
I
L
G
M
I
Y
N
V
I
I
L
G
P
T
G
F
L
G
S
A
V
F
I
L
F
Y
P
A
M
M
A
R
T
A
Y
R
R
K
C
V
A
A
T
D
E
R
V
Q
K
M
N
E
V
L
T
Y
I
K
F
I
K
M
Y
A
W
V
K
A
    
        376
        ABCC6 430
L
W
L
P
L
V
W
I
V
F
V
Y
L
W
Q
L
L
G
P
S
A
L
T
I
A
V
F
L
S
L
P
L
F
F
I
S
K
K
R
N
H
Q
E
E
Q
M
R
Q
K
D
S
A
R
L
T
S
S
I
R
S
K
I
F
H
G
W
G
A
    
        509
        ABCC7 201
V
I
L
L
L
M
M
Y
A
G
I
S
L
V
I
T
I
I
Q
S
V
K
E
A
    
        280
        ABCC8 438
W
A
M
V
I
I
V
G
V
I
L
Y
I
L
G
A
L
G
A
A
V
I
I
L
L
A
P
V
Y
F
V
T
K
L
S
Q
A
S
T
L
Y
S
N
E
L
K
Q
T
N
M
I
K
L
L
K
A
W
E
N
I
    
        517
        ABCC9 434
L
W
A
M
P
V
Q
I
I
M
G
V
I
L
L
Y
N
L
L
G
S
S
A
L
V
G
A
A
V
I
V
L
L
A
P
I
Q
Y
F
I
A
T
K
L
E
A
Q
K
S
T
L
D
Y
S
T
E
R
L
K
K
T
N
E
I
L
K
G
I
K
L
L
K
L
Y
A
W
E
H
I
    
        513
        ABCC10 401
A
W
G
L
P
L
Q
L
A
I
T
L
Y
L
L
Y
Q
Q
V
G
V
A
F
V
G
G
L
I
L
A
L
L
L
V
P
V
N
K
V
I
A
T
R
I
M
A
S
N
Q
E
M
L
Q
H
K
D
A
R
K
L
V
T
E
L
L
S
G
I
R
V
I
K
F
C
G
W
E
Q
A
    
        480
        ABCC11 281
V
L
I
T
C
A
S
L
V
I
C
S
I
S
S
Y
F
I
I
G
Y
T
A
F
I
A
I
L
C
Y
L
L
V
F
P
L
A
V
F
M
T
R
M
A
V
K
A
Q
H
H
T
S
E
V
S
D
Q
R
I
R
V
T
S
E
V
L
T
C
I
K
L
I
K
M
Y
T
W
E
K
P
    
        360
        ABCC12 241
P
A
T
I
P
I
L
M
V
F
C
A
A
Y
A
F
F
I
L
G
P
T
A
L
I
G
I
S
V
Y
V
I
F
I
P
V
Q
M
F
M
A
K
L
N
S
A
F
R
R
S
A
I
L
V
T
D
K
R
V
Q
T
M
N
E
F
L
C
I
R
L
I
K
M
Y
A
W
E
K
S
    
        320