Gene name: ABCG5

Ensembl Gene ID: ENSG00000138075

UniProt ID: Q9H222

Protein name: ATP-binding cassette sub-family G member 5 (EC 7.6.2.-) (Sterolin-1)

Encoded protein: Q9H222 - length: 651

Click on each underlined amino acid to see its variant(s). Darker underlined amino acids have variants with more significant predicted effects

10
M
G
D
L
S
S
L
T
P
G
20
G
S
M
G
L
Q
V
N
R
G
30
S
Q
S
S
L
E
G
A
P
A
40
T
A
P
E
P
H
S
L
G
I
50
L
H
A
S
Y
S
V
S
H
R
60
V
R
P
W
W
D
I
T
S
C
70
R
Q
Q
W
T
R
Q
I
L
K
80
D
V
S
L
Y
V
E
S
G
Q
90
I
M
C
I
L
G
S
S
G
S
100
G
K
T
T
L
L
D
A
M
S
110
G
R
L
G
R
A
G
T
F
L
120
G
E
V
Y
V
N
G
R
A
L
130
R
R
E
Q
F
Q
D
C
F
S
140
Y
V
L
Q
S
D
T
L
L
S
150
S
L
T
V
R
E
T
L
H
Y
160
T
A
L
L
A
I
R
R
G
N
170
P
G
S
F
Q
K
K
V
E
A
180
V
M
A
E
L
S
L
S
H
V
190
A
D
R
L
I
G
N
Y
S
L
200
G
G
I
S
T
G
E
R
R
R
210
V
S
I
A
A
Q
L
L
Q
D
220
P
K
V
M
L
F
D
E
P
T
230
T
G
L
D
C
M
T
A
N
Q
240
I
V
V
L
L
V
E
L
A
R
250
R
N
R
I
V
V
L
T
I
H
260
Q
P
R
S
E
L
F
Q
L
F
270
D
K
I
A
I
L
S
F
G
E
280
L
I
F
C
G
T
P
A
E
M
290
L
D
F
F
N
D
C
G
Y
P
300
C
P
E
H
S
N
P
F
D
F
310
Y
M
D
L
T
S
V
D
T
Q
320
S
K
E
R
E
I
E
T
S
K
330
R
V
Q
M
I
E
S
A
Y
K
340
K
S
A
I
C
H
K
T
L
K
350
N
I
E
R
M
K
H
L
K
T
360
L
P
M
V
P
F
K
T
K
D
370
S
P
G
V
F
S
K
L
G
V
380
L
L
R
R
V
T
R
N
L
V
390
R
N
K
L
A
V
I
T
R
L
400
L
Q
N
L
I
M
G
L
F
L
410
L
F
F
V
L
R
V
R
S
N
420
V
L
K
G
A
I
Q
D
R
V
430
G
L
L
Y
Q
F
V
G
A
T
440
P
Y
T
G
M
L
N
A
V
N
450
L
F
P
V
L
R
A
V
S
D
460
Q
E
S
Q
D
G
L
Y
Q
K
470
W
Q
M
M
L
A
Y
A
L
H
480
V
L
P
F
S
V
V
A
T
M
490
I
F
S
S
V
C
Y
W
T
L
500
G
L
H
P
E
V
A
R
F
G
510
Y
F
S
A
A
L
L
A
P
H
520
L
I
G
E
F
L
T
L
V
L
530
L
G
I
V
Q
N
P
N
I
V
540
N
S
V
V
A
L
L
S
I
A
550
G
V
L
V
G
S
G
F
L
R
560
N
I
Q
E
M
P
I
P
F
K
570
I
I
S
Y
F
T
F
Q
K
Y
580
C
S
E
I
L
V
V
N
E
F
590
Y
G
L
N
F
T
C
G
S
S
600
N
V
S
V
T
T
N
P
M
C
610
A
F
T
Q
G
I
Q
F
I
E
620
K
T
C
P
G
A
T
S
R
F
630
T
M
N
F
L
I
L
Y
S
F
640
I
P
A
L
V
I
L
G
I
V
650
V
F
K
I
R
D
H
L
I
S
660
R

3D structure

Chain:

Color:

Variant:

Variants on gene ABCG5 and their effect prediction scores

Variant Transcript Canonical Sequence
position		 Codons Strand Wildtype AA Mutant AA Consequence Allele
frequency		 Mean
VEP scores		 Std
VEP scores		 Show VEP Scores VEP scores from different algorithms Hide VEP scores
Alpha Missense
Pathogenicity		 BayesDel
(addAF)		 BayesDel
(noAF)		 bStatistic CADD ClinPred DANN DEOGEN2 Eigen_PC Eigen FATHMM Fathmm_
MKL		 Fathmm_XF GM12878 Geno
Canyon		 GERP_RS H1_hESC HUVEC Integrated LRT LIST_S2 MetaLR MetaRNN MetaSVM MutPred Mutation
Assessor		 Mutation
Taster		 M_CAP MPC MVP Polyphen2_
HDIV		 Polyphen2_
HVAR		 PROVEAN PhastCons
30way		 Phylo_
P30way		 PrimateAI REVEL SIFT4G SIFT SiPhy_
29way		 VEST4