(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)Legend:
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