(used for variant description)
(last modified May 2, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_022437.2 in the ABCG8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ABCG8 transcript NM_022437.2.
(upstream sequence)
. . . g.5030
ctccaggaaacagagtgaagacactggccc c.-61
. . . . . . g.5090
tggcaggcagcagctgggtctaagagagctgcagcccagggtcacagacctgtgggcccc c.-1
. . . . . . g.5150
ATGGCCGGGAAGGCGGCAGAGGAGAGAGGGCTGCCGAAAGGGGCCACTCCCCAGGATACC c.60
M A G K A A E E R G L P K G A T P Q D T p.20
| 02 . . . . . . g.10600
TCG | GGCCTCCAGGATAGATTGTTCTCCTCTGAAAGTGACAACAGCCTGTACTTCACCTAC c.120
S | G L Q D R L F S S E S D N S L Y F T Y p.40
. . . . | 03 . . g.12206
AGTGGCCAGCCCAACACCCTGGAGGTCAGAGACCTCAACTACCAG | GTGGACCTGGCCTCT c.180
S G Q P N T L E V R D L N Y Q | V D L A S p.60
. . . . . . g.12266
CAGGTCCCTTGGTTTGAGCAGCTGGCTCAGTTCAAGATGCCCTGGACATCTCCCAGCTGC c.240
Q V P W F E Q L A Q F K M P W T S P S C p.80
. . . . . . g.12326
CAGAATTCTTGTGAGCTGGGCATCCAGAACCTAAGCTTCAAAGTGAGAAGTGGGCAGATG c.300
Q N S C E L G I Q N L S F K V R S G Q M p.100
. . | 04 . . . . g.17658
CTGGCCATCATAGGGAGCTCAG | GTTGTGGGAGAGCCTCCTTGCTAGATGTGATCACTGGC c.360
L A I I G S S G | C G R A S L L D V I T G p.120
. . . . . . g.17718
CGAGGTCACGGCGGCAAGATCAAGTCAGGCCAGATCTGGATCAATGGGCAGCCCAGCTCG c.420
R G H G G K I K S G Q I W I N G Q P S S p.140
. . . . . . g.17778
CCTCAGCTGGTGAGGAAGTGTGTGGCCCACGTGCGCCAGCACAACCAGCTGCTCCCCAAC c.480
P Q L V R K C V A H V R Q H N Q L L P N p.160
. . . . . . g.17838
TTGACTGTGCGAGAGACCTTGGCCTTCATTGCCCAGATGCGGCTGCCCAGAACCTTCTCC c.540
L T V R E T L A F I A Q M R L P R T F S p.180
. . | 05 . . . . g.18429
CAGGCCCAGCGTGACAAAAGG | GTGGAGGACGTGATCGCGGAGCTGCGGCTTAGGCAGTGC c.600
Q A Q R D K R | V E D V I A E L R L R Q C p.200
. . . . . . g.18489
GCTGACACCCGCGTGGGCAACATGTACGTGCGGGGGTTGTCGGGGGGTGAGCGCAGGAGA c.660
A D T R V G N M Y V R G L S G G E R R R p.220
. . . | 06 . . . g.18661
GTCAGCATTGGGGTGCAGCTCCTGTGGAACCCAG | GAATCCTTATTCTCGACGAACCCACC c.720
V S I G V Q L L W N P G | I L I L D E P T p.240
. . . . . . g.18721
TCTGGGCTCGACAGCTTCACAGCCCACAACCTGGTGAAGACCTTGTCCAGGCTGGCCAAA c.780
S G L D S F T A H N L V K T L S R L A K p.260
. . . . . . g.18781
GGCAACCGGCTGGTGCTCATCTCCCTCCACCAGCCTCGCTCTGACATCTTCAGGCTGTTT c.840
G N R L V L I S L H Q P R S D I F R L F p.280
. . . . . . g.18841
GATCTGGTCCTCCTGATGACGTCTGGCACCCCCATCTACTTAGGGGCGGCCCAGCACATG c.900
D L V L L M T S G T P I Y L G A A Q H M p.300
. . . . . . g.18901
GTCCAGTATTTCACAGCCATCGGCTACCCCTGTCCTCGCTACAGCAATCCTGCTGACTTC c.960
V Q Y F T A I G Y P C P R Y S N P A D F p.320
| 07 . . . . . . g.38068
TATG | TGGACCTGACCAGCATTGACAGGCGCAGCAGAGAGCAGGAATTGGCCACCAGGGAG c.1020
Y V | D L T S I D R R S R E Q E L A T R E p.340
. . . . . . g.38128
AAGGCTCAGTCACTCGCAGCCCTGTTTCTAGAAAAAGTGCGTGACTTAGATGACTTTCTA c.1080
K A Q S L A A L F L E K V R D L D D F L p.360
. . . . | 08. . g.38272
TGGAAAGCAGAGACGAAGGATCTTGACGAGGACACCTGTGTGGAAAG | CAGCGTGACCCCA c.1140
W K A E T K D L D E D T C V E S | S V T P p.380
. . . . . . g.38332
CTAGACACCAACTGCCTCCCGAGTCCTACGAAGATGCCTGGGGCGGTGCAGCAGTTTACG c.1200
L D T N C L P S P T K M P G A V Q Q F T p.400
. | 09 . . . . . g.39872
ACGCTGATCCG | TCGTCAGATTTCCAACGACTTCCGAGACCTGCCCACCCTCCTCATCCAT c.1260
T L I R | R Q I S N D F R D L P T L L I H p.420
. . . . . . g.39932
GGGGCGGAGGCCTGTCTGATGTCAATGACCATCGGCTTCCTCTATTTTGGCCATGGGAGC c.1320
G A E A C L M S M T I G F L Y F G H G S p.440
. . . . . . g.39992
ATCCAGCTCTCCTTCATGGATACAGCCGCCCTCTTGTTCATGATCGGTGCTCTCATCCCT c.1380
I Q L S F M D T A A L L F M I G A L I P p.460
. . . | 10 . . . g.40472
TTCAACGTCATTCTGGATGTCATCTCCAAAT | GTTACTCAGAGAGGGCAATGCTTTACTAT c.1440
F N V I L D V I S K C | Y S E R A M L Y Y p.480
. . . . | 11 . g.41194
GAACTGGAAGACGGGCTGTACACCACTGGTCCATATTTCTTTGCCAAG | ATCCTCGGGGAG c.1500
E L E D G L Y T T G P Y F F A K | I L G E p.500
. . . . . . g.41254
CTTCCGGAGCACTGTGCCTACATCATCATCTACGGGATGCCCACCTACTGGCTGGCCAAC c.1560
L P E H C A Y I I I Y G M P T Y W L A N p.520
. . . . . . g.41314
CTGAGGCCAGGCCTCCAGCCCTTCCTGCTGCACTTCCTGCTGGTGTGGCTGGTGGTCTTC c.1620
L R P G L Q P F L L H F L L V W L V V F p.540
. . . . . . g.41374
TGTTGCAGGATTATGGCCCTGGCCGCCGCGGCCCTGCTCCCCACCTTCCACATGGCCTCC c.1680
C C R I M A L A A A A L L P T F H M A S p.560
. . . . . . g.41434
TTCTTCAGCAATGCCCTCTACAACTCCTTCTACCTCGCCGGGGGCTTCATGATAAACTTG c.1740
F F S N A L Y N S F Y L A G G F M I N L p.580
. | 12 . . . . . g.43641
AGCAGCCTGTGGACAG | TGCCCGCGTGGATTTCCAAAGTGTCCTTCCTGCGGTGGTGTTTT c.1800
S S L W T V | P A W I S K V S F L R W C F p.600
. . . . . . g.43701
GAAGGGCTGATGAAGATTCAGTTCAGCAGAAGAACTTATAAAATGCCTCTCGGGAACCTC c.1860
E G L M K I Q F S R R T Y K M P L G N L p.620
. . | 13 . . . . g.43848
ACCATCGCGGTCTCAGGAGATAAA | ATCCTCAGTGTCATGGAGCTGGACTCGTACCCTCTC c.1920
T I A V S G D K | I L S V M E L D S Y P L p.640
. . . . . . g.43908
TACGCCATCTACCTCATCGTCATTGGCCTCAGCGGTGGCTTCATGGTCCTGTACTACGTG c.1980
Y A I Y L I V I G L S G G F M V L Y Y V p.660
. . . . g.43950
TCCTTAAGGTTCATCAAACAGAAACCAAGTCAAGACTGGTGA c.2022
S L R F I K Q K P S Q D W X p.673
. . . . . . g.44010
ttcacgccagacgtctgcccgctggtgggggacctgagcagacccttcaactgcactccc c.*60
. . . . . . g.44070
tcctcaggagccccttcctggggacagtgaggacaatgaccctacagatgctcagctaca c.*120
. . . . . . g.44130
tccggcccagggtgctgcagtggcacagaccagccacaggatggcagtagaataaagaca c.*180
. . . . . . g.44190
gtcgaaagggatttctgctcactggcaggagactgcgatgactgggagaaaacctgcact c.*240
. . . . . . g.44250
cggtggcacctacaacgttgctaatttatttccttttgatatgcatttatataggcaact c.*300
. . . . . . g.44310
cgatataggatgggagcaaactaggaatgaattgggtagctagactgtgcaggaattgtt c.*360
. . . . . . g.44370
ggaacctggagggaacaataacagtagctagcagatttggcttcatcttccaggggcccc c.*420
. . . . . . g.44430
acactccgtggtgagccaccatcaatacagaaagtgacctaagatgtaccagcaagatgc c.*480
. . . . . . g.44490
catcccttctttttgtgtggggtcatgggctccaaaagccaacgtgaacaattaaaaatg c.*540
. g.44503
tattgagcatcta c.*553
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center