(used for mutation description)
(last modified April 19, 2010)
This file was created to facilitate the description of sequence variants in the ABCB11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007374.1, covering ABCB11 transcript NM_003742.2.
(upstream sequence)
g.207
gaatga c.-121
. . . . . . g.267
tgaaaaccgaggttggaaaaggttgtgaaaccttttaactctccacagtggagtccatta c.-61
. . . . | 02 . . g.13399
tttcctctggcttcctcaaattcatattcacag | ggtcgttggctgtgggttgcaattacc c.-1
. . . . . . g.13459
ATGTCTGACTCAGTAATTCTTCGAAGTATAAAGAAATTTGGAGAGGAGAATGATGGTTTT c.60
M S D S V I L R S I K K F G E E N D G F p.20
. | 03 . . | 04 . . g.17192
GAGTCAGATAAATCAT | ATAATAATGATAAGAAATCAAG | GTTACAAGATGAGAAGAAAGGT c.120
E S D K S Y | N N D K K S R | L Q D E K K G p.40
. . . | 05 . . . g.18044
GATGGCGTTAGAGTTGGCTTCTTTCAATTG | TTTCGGTTTTCTTCATCAACTGACATTTGG c.180
D G V R V G F F Q L | F R F S S S T D I W p.60
. . . . . . g.18104
CTGATGTTTGTGGGAAGTTTGTGTGCATTTCTCCATGGAATAGCCCAGCCAGGCGTGCTA c.240
L M F V G S L C A F L H G I A Q P G V L p.80
. . . . . . g.18164
CTCATTTTTGGCACAATGACAGATGTTTTTATTGACTACGACGTTGAGTTACAAGAACTC c.300
L I F G T M T D V F I D Y D V E L Q E L p.100
. . . . . . g.18224
CAGATTCCAGGAAAAGCATGTGTGAATAACACCATTGTATGGACTAACAGTTCCCTCAAC c.360
Q I P G K A C V N N T I V W T N S S L N p.120
. . | 06 . . . g.34833
CAGAACATGACAAATGGAACACGTTGTGG | GTTGCTGAACATCGAGAGCGAAATGATCAAA c.420
Q N M T N G T R C G | L L N I E S E M I K p.140
. . . . . | 07. g.36045
TTTGCCAGTTACTATGCTGGAATTGCTGTCGCAGTACTTATCACAGGATATATTCAA | ATA c.480
F A S Y Y A G I A V A V L I T G Y I Q | I p.160
. . . . . . g.36105
TGCTTTTGGGTCATTGCCGCAGCTCGTCAGATACAGAAAATGAGAAAATTTTACTTTAGG c.540
C F W V I A A A R Q I Q K M R K F Y F R p.180
. . . . . . g.36165
AGAATAATGAGAATGGAAATAGGGTGGTTTGACTGCAATTCAGTGGGGGAGCTGAATACA c.600
R I M R M E I G W F D C N S V G E L N T p.200
. | 08 . . . . . g.37691
AGATTCTCTGA | TGATATTAATAAAATCAATGATGCCATAGCTGACCAAATGGCCCTTTTC c.660
R F S D | D I N K I N D A I A D Q M A L F p.220
. . . . . . g.37751
ATTCAGCGCATGACCTCGACCATCTGTGGTTTCCTGTTGGGATTTTTCAGGGGTTGGAAA c.720
I Q R M T S T I C G F L L G F F R G W K p.240
. . . . . . g.37811
CTGACCTTGGTTATTATTTCTGTCAGCCCTCTCATTGGGATTGGAGCAGCCACCATTGGT c.780
L T L V I I S V S P L I G I G A A T I G p.260
| 09 . . . . . . g.40656
CTG | AGTGTGTCCAAGTTTACGGACTATGAGCTGAAGGCCTATGCCAAAGCAGGGGTGGTG c.840
L | S V S K F T D Y E L K A Y A K A G V V p.280
. . . . . . g.40716
GCTGATGAAGTCATTTCATCAATGAGAACAGTGGCTGCTTTTGGTGGTGAGAAAAGAGAG c.900
A D E V I S S M R T V A A F G G E K R E p.300
| 10 . . . . . g.45292
GTTGAAAG | GTATGAGAAAAATCTTGTGTTCGCCCAGCGTTGGGGAATTAGAAAAGGAATA c.960
V E R | Y E K N L V F A Q R W G I R K G I p.320
. . . . . . g.45352
GTGATGGGATTCTTTACTGGATTCGTGTGGTGTCTCATCTTTTTGTGTTATGCACTGGCC c.1020
V M G F F T G F V W C L I F L C Y A L A p.340
. . . . . . g.45412
TTCTGGTACGGCTCCACACTTGTCCTGGATGAAGGAGAATATACACCAGGAACCCTTGTC c.1080
F W Y G S T L V L D E G E Y T P G T L V p.360
| 11 . . . . . . g.51602
CAG | ATTTTCCTCAGTGTCATAGTAGGAGCTTTAAATCTTGGCAATGCCTCTCCTTGTTTG c.1140
Q | I F L S V I V G A L N L G N A S P C L p.380
. . . . . | 12. g.54840
GAAGCCTTTGCAACTGGACGTGCAGCAGCCACCAGCATTTTTGAGACAATAGACAGG | AAA c.1200
E A F A T G R A A A T S I F E T I D R | K p.400
. . . . . . g.54900
CCCATCATTGACTGCATGTCAGAAGATGGTTACAAGTTGGATCGAATCAAGGGTGAAATT c.1260
P I I D C M S E D G Y K L D R I K G E I p.420
. . . . | 13 . g.57696
GAATTCCATAATGTGACCTTCCATTATCCTTCCAGACCAGAGGTGAAG | ATTCTAAATGAC c.1320
E F H N V T F H Y P S R P E V K | I L N D p.440
. . . . . . g.57756
CTCAACATGGTCATTAAACCAGGGGAAATGACAGCTCTGGTAGGACCCAGTGGAGCTGGA c.1380
L N M V I K P G E M T A L V G P S G A G p.460
. . . . . | 14 . g.59480
AAAAGTACAGCACTGCAACTCATTCAGCGATTCTATGACCCCTGTGAAGGAATG | GTGACC c.1440
K S T A L Q L I Q R F Y D P C E G M | V T p.480
. . . . . . g.59540
GTGGATGGCCATGACATTCGCTCTCTTAACATTCAGTGGCTTAGAGATCAGATTGGGATA c.1500
V D G H D I R S L N I Q W L R D Q I G I p.500
. . . . . . g.59600
GTGGAGCAAGAGCCAGTTCTGTTCTCTACCACCATTGCAGAAAATATTCGCTATGGCAGA c.1560
V E Q E P V L F S T T I A E N I R Y G R p.520
. . . . . . g.59660
GAAGATGCAACAATGGAAGACATAGTCCAAGCTGCCAAGGAGGCCAATGCCTACAACTTC c.1620
E D A T M E D I V Q A A K E A N A Y N F p.540
. | 15 . . . . g.61351
ATCATGGACCTGCCACAG | CAATTTGACACCCTTGTTGGAGAAGGAGGAGGCCAGATGAGT c.1680
I M D L P Q | Q F D T L V G E G G G Q M S p.560
. . . . . . g.61411
GGTGGCCAGAAACAAAGGGTAGCTATCGCCAGAGCCCTCATCCGAAATCCCAAGATTCTG c.1740
G G Q K Q R V A I A R A L I R N P K I L p.580
. . . . . . g.61471
CTTTTGGACATGGCCACCTCAGCTCTGGACAATGAGAGTGAAGCCATGGTGCAAGAAGTG c.1800
L L D M A T S A L D N E S E A M V Q E V p.600
| 16 . . . . . g.62024
CTGAGTAAG | ATTCAGCATGGGCACACAATCATTTCAGTTGCTCATCGCTTGTCTACGGTC c.1860
L S K | I Q H G H T I I S V A H R L S T V p.620
. . . . . . g.62084
AGAGCTGCAGATACCATCATTGGTTTTGAACATGGCACTGCAGTGGAAAGAGGGACCCAT c.1920
R A A D T I I G F E H G T A V E R G T H p.640
. . . . . . g.62144
GAAGAATTACTGGAAAGGAAAGGTGTTTACTTCACTCTAGTGACTTTGCAAAGCCAGGGA c.1980
E E L L E R K G V Y F T L V T L Q S Q G p.660
. . . | 17 . . . g.63063
AATCAAGCTCTTAATGAAGAGGACATAAAGG | ATGCAACTGAAGATGACATGCTTGCGAGG c.2040
N Q A L N E E D I K D | A T E D D M L A R p.680
. . . | 18 . . . g.67241
ACCTTTAGCAGAGGGAGCTACCAGGATAGTTTAAG | GGCTTCCATCCGGCAACGCTCCAAG c.2100
T F S R G S Y Q D S L R | A S I R Q R S K p.700
. . . . . . g.67301
TCTCAGCTTTCTTACCTGGTGCACGAACCTCCATTAGCTGTTGTAGATCATAAGTCTACC c.2160
S Q L S Y L V H E P P L A V V D H K S T p.720
. | 19 . . . . g.73438
TATGAAGAAGATAGAAAG | GACAAGGACATTCCTGTGCAGGAAGAAGTTGAACCTGCCCCA c.2220
Y E E D R K | D K D I P V Q E E V E P A P p.740
. . . . . . g.73498
GTTAGGAGGATTCTGAAATTCAGTGCTCCAGAATGGCCCTACATGCTGGTAGGGTCTGTG c.2280
V R R I L K F S A P E W P Y M L V G S V p.760
. . . . . . g.73558
GGTGCAGCTGTGAACGGGACAGTCACACCCTTGTATGCCTTTTTATTCAGCCAGATTCTT c.2340
G A A V N G T V T P L Y A F L F S Q I L p.780
| 20 . . . . . . g.86620
GGG | ACTTTTTCAATTCCTGATAAAGAGGAACAAAGGTCACAGATCAATGGTGTGTGCCTA c.2400
G | T F S I P D K E E Q R S Q I N G V C L p.800
. . . . | 21 . g.86770
CTTTTTGTAGCAATGGGCTGTGTATCTCTTTTCACCCAATTTCTACAG | GGATATGCCTTT c.2460
L F V A M G C V S L F T Q F L Q | G Y A F p.820
. . . . . . g.86830
GCTAAATCTGGGGAGCTCCTAACAAAAAGGCTACGTAAATTTGGTTTCAGGGCAATGCTG c.2520
A K S G E L L T K R L R K F G F R A M L p.840
. . . . . . g.86890
GGGCAAGATATTGCCTGGTTTGATGACCTCAGAAATAGCCCTGGAGCATTGACAACAAGA c.2580
G Q D I A W F D D L R N S P G A L T T R p.860
. . . | 22 . . . g.95121
CTTGCTACAGATGCTTCCCAAGTTCAAGGG | GCTGCCGGCTCTCAGATCGGGATGATAGTC c.2640
L A T D A S Q V Q G | A A G S Q I G M I V p.880
. . . . . . g.95181
AATTCCTTCACTAACGTCACTGTGGCCATGATCATTGCCTTCTCCTTTAGCTGGAAGCTG c.2700
N S F T N V T V A M I I A F S F S W K L p.900
. . . . . . g.95241
AGCCTGGTCATCTTGTGCTTCTTCCCCTTCTTGGCTTTATCAGGAGCCACACAGACCAGG c.2760
S L V I L C F F P F L A L S G A T Q T R p.920
. . . . . | 23 . g.96105
ATGTTGACAGGATTTGCCTCTCGAGATAAGCAGGCCCTGGAGATGGTGGGACAG | ATTACA c.2820
M L T G F A S R D K Q A L E M V G Q | I T p.940
. . . . . . g.96165
AATGAAGCCCTCAGTAACATCCGCACTGTTGCTGGAATTGGAAAGGAGAGGCGGTTCATT c.2880
N E A L S N I R T V A G I G K E R R F I p.960
. . . . . . g.96225
GAAGCACTTGAGACTGAGCTGGAGAAGCCCTTCAAGACAGCCATTCAGAAAGCCAATATT c.2940
E A L E T E L E K P F K T A I Q K A N I p.980
. . . . . . g.96285
TACGGATTCTGCTTTGCCTTTGCCCAGTGCATCATGTTTATTGCGAATTCTGCTTCCTAC c.3000
Y G F C F A F A Q C I M F I A N S A S Y p.1000
. . . . . | 24 . g.98995
AGATATGGAGGTTACTTAATCTCCAATGAGGGGCTCCATTTCAGCTATGTGTTCAG | GGTG c.3060
R Y G G Y L I S N E G L H F S Y V F R | V p.1020
. . . . . . g.99055
ATCTCTGCAGTTGTACTGAGTGCAACAGCTCTTGGAAGAGCCTTCTCTTACACCCCAAGT c.3120
I S A V V L S A T A L G R A F S Y T P S p.1040
. . . . . . g.99115
TATGCAAAAGCTAAAATATCAGCTGCACGCTTTTTTCAACTGCTGGACCGACAACCCCCA c.3180
Y A K A K I S A A R F F Q L L D R Q P P p.1060
. . . | 25 . . . g.100689
ATCAGTGTATACAATACTGCAGGTGAAAAATGG | GACAACTTCCAGGGGAAGATTGATTTT c.3240
I S V Y N T A G E K W | D N F Q G K I D F p.1080
. . . . . . g.100749
GTTGATTGTAAATTTACATATCCTTCTCGACCTGACTCGCAAGTTCTGAATGGTCTCTCA c.3300
V D C K F T Y P S R P D S Q V L N G L S p.1100
. . . . . . g.100809
GTGTCGATTAGTCCAGGGCAGACACTGGCGTTTGTTGGGAGCAGTGGATGTGGCAAAAGC c.3360
V S I S P G Q T L A F V G S S G C G K S p.1120
. . . . . | 26 . g.104171
ACTAGCATTCAGCTGTTGGAACGTTTCTATGATCCTGATCAAGGGAAGGTG | ATGATAGAT c.3420
T S I Q L L E R F Y D P D Q G K V | M I D p.1140
. . . . . . g.104231
GGTCATGACAGCAAAAAAGTAAATGTCCAGTTCCTCCGCTCAAACATTGGAATTGTTTCC c.3480
G H D S K K V N V Q F L R S N I G I V S p.1160
. . . . . . g.104291
CAGGAACCAGTGTTGTTTGCCTGTAGCATAATGGACAATATCAAGTATGGAGACAACACC c.3540
Q E P V L F A C S I M D N I K Y G D N T p.1180
. . . . . . g.104351
AAAGAAATTCCCATGGAAAGAGTCATAGCAGCTGCAAAACAGGCTCAGCTGCATGATTTT c.3600
K E I P M E R V I A A A K Q A Q L H D F p.1200
. | 27 . . . . g.106763
GTCATGTCACTCCCAGAG | AAATATGAAACTAACGTTGGGTCCCAGGGGTCTCAACTCTCT c.3660
V M S L P E | K Y E T N V G S Q G S Q L S p.1220
. . . . . . g.106823
AGAGGGGAGAAACAACGCATTGCTATTGCTCGGGCCATTGTACGAGATCCTAAAATCTTG c.3720
R G E K Q R I A I A R A I V R D P K I L p.1240
. . . . | 28 . . g.107717
CTACTAGATGAAGCCACTTCTGCCTTAGACACAGAAAGTGAAAAG | ACGGTGCAGGTTGCT c.3780
L L D E A T S A L D T E S E K | T V Q V A p.1260
. . . . . . g.107777
CTAGACAAAGCCAGAGAGGGTCGGACCTGCATTGTCATTGCCCATCGCTTGTCCACCATC c.3840
L D K A R E G R T C I V I A H R L S T I p.1280
. . . . . . g.107837
CAGAACGCGGATATCATTGCTGTCATGGCACAGGGGGTGGTGATTGAAAAGGGGACCCAT c.3900
Q N A D I I A V M A Q G V V I E K G T H p.1300
. . . . . . g.107897
GAAGAACTGATGGCCCAAAAAGGAGCCTACTACAAACTAGTCACCACTGGATCCCCCATC c.3960
E E L M A Q K G A Y Y K L V T T G S P I p.1320
g.107903
AGTTGA c.3966
S X p.1321
. . . . . . g.107963
cccaatgcaagaatctcagacacacatgacgcaccagttacaggggttgtttttaaagaa c.*60
. . . . . . g.108023
aaaaacaatcccagcaggagggattgctgggattgttttttctttaaagaagaatgttaa c.*120
. . . . . . g.108083
tattttacttttacagtcattttcctacatcggaatccaagctaatttctaatggccttc c.*180
. . . . . . g.108143
cataataattctgctttagatgtgtatacagaaaatgaaagaaactagggtccatatgag c.*240
. . . . . . g.108203
ggaaaacccaatgtcaagtggcagctcagccaccactcagtgcttctctgtgcaggagcc c.*300
. . . . . . g.108263
agtcctgattaatatgtgggaattagtgagacatcagggagtaagtgacactttgaactc c.*360
. . . . . . g.108323
ctcaagggcagagaactgtctttcatttttgaaccctcggtgtacacagaggcgggtcta c.*420
. . . . . . g.108383
taacaggcaatcaacaaacgtttcttgagctagaccaaggtcagatttgaaaagaacaga c.*480
. . . . . . g.108443
aggactgaagaccagctgtgtttcttaactaaatttgtctttcaagtgaaaccagcttcc c.*540
. . . . . . g.108503
ttcatctctaaggctaaggatagggaaagggtggatgctctcaggctgagggaggcagaa c.*600
. . . . . . g.108563
agggaaagtattagcatgagctttccagttagggctgttgatttatgctttaacttcaga c.*660
. . g.108586
gtgagtgtaggggtggtgatgct c.*683
(downstream sequence)
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