(used for variant description)
(last modified August 1, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001609.3 in the ACADSB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008003.1, covering ACADSB transcript NM_001609.3.
(upstream sequence)
. . . . . g.5057
agggattaagggggggtgtgtgcggggcgggtactgagtgggcggggccttgctcgg c.-61
. . . . . . g.5117
gtaactcccaggggctggctagagacccagaggcgcagagcggagaggcctgcggcgagg c.-1
. . . . | 02 . . g.30461
ATGGAGGGCCTGGCAGTGCGGTTGCTGCGCGGCAGCAGGCTG | CTAAGAAGAAATTTCCTG c.60
M E G L A V R L L R G S R L | L R R N F L p.20
. . . . . . g.30521
ACTTGTTTGTCTTCTTGGAAGATTCCTCCTCATGTCTCAAAATCTTCCCAGTCAGAAGCT c.120
T C L S S W K I P P H V S K S S Q S E A p.40
. . . . . . g.30581
CTACTCAATATAACAAATAATGGAATACACTTTGCTCCCCTGCAAACATTTACAGATGAG c.180
L L N I T N N G I H F A P L Q T F T D E p.60
. . | 03 . . . . g.33872
GAAATGATGATAAAGAGTTCAG | TTAAAAAATTTGCTCAGGAACAAATTGCACCTTTGGTT c.240
E M M I K S S V | K K F A Q E Q I A P L V p.80
. . . . . . g.33932
TCAACCATGGATGAAAATTCGAAAATGGAGAAATCAGTAATACAAGGATTATTTCAACAA c.300
S T M D E N S K M E K S V I Q G L F Q Q p.100
| 04 . . . . . . g.36610
GGG | TTGATGGGTATTGAAGTTGACCCAGAATATGGAGGCACAGGAGCTTCATTTTTATCC c.360
G | L M G I E V D P E Y G G T G A S F L S p.120
. . . . . . g.36670
ACTGTGCTCGTGATAGAGGAATTAGCCAAAGTTGATGCATCTGTGGCTGTCTTTTGTGAG c.420
T V L V I E E L A K V D A S V A V F C E p.140
. . . . . . g.36730
ATCCAGAACACATTAATTAACACACTGATTAGAAAACATGGAACAGAAGAACAAAAGGCC c.480
I Q N T L I N T L I R K H G T E E Q K A p.160
. . . | 05 . . . g.37326
ACCTATTTGCCTCAGCTCACTACAGAAAAA | GTAGGAAGTTTCTGCCTTTCAGAGGCTGGA c.540
T Y L P Q L T T E K | V G S F C L S E A G p.180
. . . . . . g.37386
GCAGGTAGTGACTCATTTGCTTTGAAGACCAGAGCTGATAAAGAGGGAGATTATTATGTC c.600
A G S D S F A L K T R A D K E G D Y Y V p.200
. . . . . . g.37446
CTCAATGGATCAAAGATGTGGATCAGCAGTGCTGAGCACGCAGGGCTCTTTCTGGTGATG c.660
L N G S K M W I S S A E H A G L F L V M p.220
. . | 06 . . . . g.39172
GCAAATGTAGACCCTACCATT | GGATATAAGGGAATTACCTCCTTCTTAGTAGATCGTGAT c.720
A N V D P T I | G Y K G I T S F L V D R D p.240
. . . . . . g.39232
ACTCCGGGCCTTCATATAGGGAAACCTGAAAACAAATTGGGGCTCAGAGCTTCTTCCACC c.780
T P G L H I G K P E N K L G L R A S S T p.260
. . | 07. . . . g.40513
TGCCCGTTAACATTCGAAAATGTCAAG | GTTCCAGAAGCCAATATCTTGGGACAAATTGGA c.840
C P L T F E N V K | V P E A N I L G Q I G p.280
. . . . . . g.40573
CATGGCTATAAGTATGCCATAGGGAGTCTCAATGAAGGTAGAATAGGAATTGCTGCACAG c.900
H G Y K Y A I G S L N E G R I G I A A Q p.300
| 08 . . . . . . g.43356
| ATGCTGGGACTGGCGCAAGGATGTTTTGACTACACTATTCCATATATTAAAGAAAGGATA c.960
| M L G L A Q G C F D Y T I P Y I K E R I p.320
. . . | 09 . . . g.47166
CAATTTGGCAAAAGACTATTTGATTTTCAG | GGCCTCCAACACCAAGTGGCTCACGTGGCC c.1020
Q F G K R L F D F Q | G L Q H Q V A H V A p.340
. . . . . . g.47226
ACCCAGCTGGAAGCTGCAAGATTACTAACATACAATGCTGCTAGGCTTTTAGAAGCTGGA c.1080
T Q L E A A R L L T Y N A A R L L E A G p.360
. . . . | 10 . g.49160
AAGCCATTCATAAAAGAAGCGTCAATGGCCAAATACTATGCATCAGAG | ATTGCAGGACAA c.1140
K P F I K E A S M A K Y Y A S E | I A G Q p.380
. . . . . . g.49220
ACAACGAGTAAATGTATCGAGTGGATGGGGGGAGTAGGCTACACCAAAGATTACCCTGTG c.1200
T T S K C I E W M G G V G Y T K D Y P V p.400
. . | 11 . . . g.49814
GAGAAATACTTCCGAGATGCAAAGATTG | GTACGATATATGAAGGAGCTTCCAACATCCAG c.1260
E K Y F R D A K I G | T I Y E G A S N I Q p.420
. . . g.49853
TTGAACACCATTGCAAAGCATATCGATGCAGAATACTGA c.1299
L N T I A K H I D A E Y X p.432
. . . . . . g.49913
cgtctataggagtgggacccctccctggtgtcactgctgtaaaattttaaacggttgtgt c.*60
. . . . . . g.49973
cttgttgggagtaagtgccttgcgtgggaataaacttccacagcattcgaatattttaat c.*120
. . . . . . g.50033
gaagcccttagtcagggtcctggtgttggcctttttggttttctcttttcaggctgttta c.*180
. . . . . . g.50093
acttaggcacaggagatccacttttaaacttgggaaataagcacctgtatttttttccaa c.*240
. . . . . . g.50153
aactgtttttaaagctgtatacgcatacatatatatatttttactctgtcttactctgtc c.*300
. . . . . . g.50213
acccaggctagagtgcagtggcgcgatctcagctcactgcagccttgacctcctgggttc c.*360
. . . . . . g.50273
cagtgattctcatgcctcatcctcccaagtagctggaactacaggtgtgcaccaccatgc c.*420
. . . . . . g.50333
ctggttcatttttgtgtttttagtagagatggggttttaccatattgcccaggctggtct c.*480
. . . . . . g.50393
tctggcttctggatatcgcccaccttggcctcccaaagtgctgggattacagggatgagc c.*540
. . . . . . g.50453
caccgtgcctggctgggtatttatattatcattctagtttcagagtatacagaagtttca c.*600
. . . . . . g.50513
tcccatcatttggaaaaataaaggcatctgaagtacaatattacttatagaaatagttta c.*660
. . . . . . g.50573
tattcctattaaatcttaatcttgtggcatcagggaaatatttgttacatagtaggcaat c.*720
. . . . . . g.50633
ttttatccagtactttatagattcaactctaagttgcaagcgaagtcaaaactgatgaaa c.*780
. . . . . . g.50693
atttatttagaaaaatctaaaaattctggttttaaatatgagaatcagtggaaaataagg c.*840
. . . . . . g.50753
gtataattttgtaggtcatatgattgaagaaaatattattttaacaatgtaaagcaatat c.*900
. . . . . . g.50813
gatttgttactataattaacctgtataaaagatacattttatggtggtttcagtaggtca c.*960
. . . . . . g.50873
ttttaaaaaccaatgtgcattagttttcaagtataaggtttaagtaatttggtttaataa c.*1020
. . . . . . g.50933
tcagaaaatattcaatacagtgttggatattctgtcatgcactatttttcagttgacaat c.*1080
. . . . . . g.50993
ttctgtattttaattgaatactgtttcttcagtcatggttattgcactttatcctgaata c.*1140
. . . . . . g.51053
ataattcagaaattgggttttggttcagtgattctcaagaaaaagatctcttgcccatta c.*1200
. . . . . . g.51113
agaagtgtatcaaaatctcataaggaatgagggagagaagggggctgtagagtttgaaaa c.*1260
. . . . . . g.51173
agcatattcaatattaaaatagttttatatttgggaaggcaaaaatgaatctattgtttt c.*1320
. . . . . . g.51233
gcaatataggttataaacaggcaaaatgcaataaaatatatatctggttgtattagtctg c.*1380
. . . . . . g.51293
ttttcacgctgctgataaagacatacctgagaccaggaagaaaaagaggtttaattggac c.*1440
. . . . . . g.51353
ttacagttccacatgactggggaggcctcagaatcatggtgggaggcaaaaagcacttct c.*1500
. . . . . . g.51413
tacatggcggcagcaagagaaaatgagaaagaagcaaaagtggaaacccctaataaacct c.*1560
. . . . . . g.51473
atcagatcttgtgagacttactatcacgagaatagcacaggaaagactggcccccatgat c.*1620
. . . . . . g.51533
tcaattacctcccccgggtccctcccacaacacatgggaattctgagagataccatttaa c.*1680
. . . . . . g.51593
gttgagatttcagtggggacacagccaaaccatatcattctacccctggcacctccaaat c.*1740
. . . . . . g.51653
ctcatgtcctcacatttcaaaaccaatcatgccttcccaacagtcccccaaagtcttaac c.*1800
. . . . . . g.51713
tcatttcagcattaacccaaaagtccgcagtccaaagtttcatctgagacaaggcaagtc c.*1860
. . . . . . g.51773
ccttccacttatgaacctgtaaaatcaaaagtaaactagttacttcctagatacaatggg c.*1920
. . . . . . g.51833
ggtacaggtattgggtaaatacagccattccaaatgggagaaattggccaacacaaaagg c.*1980
. . . . . . g.51893
gtaacagggcccatgcaagtccaaaattcagcagggcagtcaaattttaaacctccaaaa c.*2040
. . . . . . g.51953
tgatcacctttgactccacgtctcacaatcatctctctcaagttcgaagttccacaaatc c.*2100
. . . . . . g.52013
tctaaggcaagggaaagatgctgccagtctctttgctaaaacacagcaagagtcaccttt c.*2160
. . . . . . g.52073
actccagttcccaaaaagtttttcatctccatctgagaccacctcagcctgaattttatt c.*2220
. . . . . . g.52133
gtcaatattgctatcagcattttgggcaaagccattcagcaagtatctaggaagttccaa c.*2280
. . . . . . g.52193
actttcccacattttcctgtcttcttctgagcccttcaaactgttccaacctctgcctgt c.*2340
. . . . . . g.52253
tacccagttccaaacttgctttcatatttttggctatcttttcagcaatgccccactcta c.*2400
. . . . . . g.52313
ctgttagcagtttactgtattagtctgttttcacactgctgataaagacattcctcaaga c.*2460
. . . . . . g.52373
ttgtgaagaaaaagaggtttaattggacttacagttccacatggccggggaggcctcaga c.*2520
. . . . . . g.52433
atcatggcgggaggtgaaaagcacttcgtacatggtggtggcaagagaaaatgaagaaga c.*2580
. . . . . . g.52493
agcaaaagtggaaacccctgataaacccatcagatctcatgagacttactatcatgagaa c.*2640
. . . . . . g.52553
tagcacaggaaagactggcccccctgattcgatgacctccccctgggtccctcccacaac c.*2700
. . . . . . g.52613
atgtgggaattccagaagataaattcaagttgcaatttcagtggggacatagccaaacca c.*2760
. . . . . . g.52673
tatcactggtgatgccacttcttcagtattagggattctcagtcagaagagaccccctgt c.*2820
. . . . . . g.52733
gtggcctgagtcccctcaggaggaaggtggacaacagagaaatgagagttttgatatttt c.*2880
. . . . . . g.52793
ctgaaagaggaacatgtgttagagatgaagaatcttccaaggctcatgcagttgcttaga c.*2940
. . . . . . g.52853
ataatcattactgttatatgagaaacattttagtaatttaataaaaggataatgtttatt c.*3000
. . . . . . g.52913
taaaaaacctgacttttccagagtaattttgttttgcacattcatgtttattgaagtgga c.*3060
. . . . . . g.52973
ctaatttctataatgcaaatcagagttaaatattaaaaattgtgtaaatacaattgacat c.*3120
. . . . . . g.53033
aggaattacattaaaatattaggaagaaacaaggacaaatttagaccttgaatccgaaga c.*3180
. . . . . . g.53093
gataaagcttacttgactttcaaatggagagatgatgaaaacccactcattcactctttc c.*3240
. . . . . . g.53153
agaacaaaaagacagtcatctgataagagtatgacatggatgaaatgccctacaggggcc c.*3300
. . . . . . g.53213
ttggacatctttaatttctgcgattatgtgaaagaggtggactttacagataatggagca c.*3360
. . . . . . g.53273
gaagccaacattagtaaaaggaatcccaacttcttcccatagaattagaaacatgtgaaa c.*3420
. . . . . . g.53333
gtacaataaacttcttgttcaaattaccagcatcagagagcttcccatttgcatctagac c.*3480
. . . . . . g.53393
cttgaatttatatttattgatcaagttctaatttgtatgtatattttgtgcatattcacc c.*3540
. . . . . . g.53453
aataacagttaaaattaattatgtgttatagttaatatatgcacctaccttcttccgtta c.*3600
. . . . . . g.53513
gtgcatcagtaaatgtgttattttgtcatttttccaaagagagtgttgtaggttttccct c.*3660
. . . . . . g.53573
gtagttcttcctttatagcttttcttctgataaccatgacttcaggagctttaaaactat c.*3720
. . . . . . g.53633
ctatcttgcatttgtgtctggcggagaactagccatcagcctcctgaagcctgccatcat c.*3780
. . . . . . g.53693
tgttaatttgaggactgggctgtcttggggctcagaagataaagaactatttgagcagat c.*3840
. . . . . . g.53753
gtgtgtgggtggcactggattccacccaactgccaagttagtattgttagagatttcatt c.*3900
. . . . . . g.53813
ttacaacacaaaaataagcctgtgtcaaagattttaaaatcatggaaagttaaaatctag c.*3960
. . . . . . g.53873
aaagaccttagagaaccagccaaccaactctctcattttaaaagtgaaggattcatagca c.*4020
. . . . . . g.53933
cagattacttgcctaagatcatccaggaacgaagacaagaatccaaatgtacttggggac c.*4080
. . . . . . g.53993
aagaattagtccccaaattcagtgttcttcctagtattaaacattgcccctttcgacaaa c.*4140
. . . . . . g.54053
ttttggatttcattcttgttatatttcagtactcttgctgatttattttaggtttaactg c.*4200
. . . . . . g.54113
gtaaagaatgaacatttcagaagtgttaggattagtcagtgtcatcgcttatgtatatga c.*4260
. . . . . . g.54173
atcacttgccaaagacactggctctcctcagctgtaaccagcatgtcaaatgtgaagatt c.*4320
. . . . . . g.54233
attgtgtgggatcctttggtttcattgttatgatgtattttataaatgtactagttatat c.*4380
. . . . . . g.54293
ccttgtttatgtatttttgctgatctttcataaagcagaatggtatgtatcggattgttt c.*4440
. . . . . . g.54353
taatgttatatattggattgtattcgatgttacaaaaccaatattctatggagaatgaaa c.*4500
. . g.54378
aaaataaaggactaaattaactgga c.*4525
(downstream sequence)
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