(used for variant description)
(last modified December 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_002858.3 in the ABCD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008865.1, covering ABCD3 transcript NM_002858.3.
(upstream sequence)
. . . . g.5042
ctctgctctcctcccagtctcccccgcgctgcgtgcagtaag c.-61
. . . . . . g.5102
gtagccgccgccgccgccgccgccgcgtcccctcgccggctcgctggtaccggcagtgcc c.-1
. . . . . . g.5162
ATGGCGGCCTTCAGCAAGTACTTGACGGCGCGAAACTCCTCGCTGGCTGGTGCCGCGTTC c.60
M A A F S K Y L T A R N S S L A G A A F p.20
. . . . . | 02 . g.45240
CTGCTGCTCTGCCTGCTCCACAAGCGGCGCCGCGCCCTCGGCCTGCACGG | TAAGAAAAGT c.120
L L L C L L H K R R R A L G L H G | K K S p.40
. . | 03. . . . g.51431
GGAAAACCACCATTACAGAACAATGAG | AAAGAGGGGAAAAAGGAGCGAGCTGTGGTGGAC c.180
G K P P L Q N N E | K E G K K E R A V V D p.60
. . . . . . g.51491
AAGGTGTTTTTCTCAAGGCTCATACAGATTCTGAAAATCATGGTCCCTAGAACATTTTGT c.240
K V F F S R L I Q I L K I M V P R T F C p.80
| 04 . . . . . . g.54596
AAAGAG | ACAGGTTACTTGGTACTTATTGCTGTTATGCTGGTGTCTCGAACATATTGTGAT c.300
K E | T G Y L V L I A V M L V S R T Y C D p.100
. . . | 05 . . . g.60414
GTTTGGATGATTCAAAATGGGACACTAATTGAAAG | TGGTATCATTGGTCGTAGCAGGAAA c.360
V W M I Q N G T L I E S | G I I G R S R K p.120
. . . . | 06 . . g.61781
GATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCTCTT | ATCTCTCTGGTTAAT c.420
D F K R Y L L N F I A A M P L | I S L V N p.140
. . . . . . g.61841
AACTTCTTGAAGTATGGGTTAAATGAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAA c.480
N F L K Y G L N E L K L C F R V R L T K p.160
. . | 07 . . . . g.62274
TACCTCTATGAGGAGTATCTTCA | AGCTTTCACATATTATAAAATGGGGAATCTGGACAAC c.540
Y L Y E E Y L Q | A F T Y Y K M G N L D N p.180
. . . . . . g.62334
AGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAAAAATTTTGTAACAGTGTA c.600
R I A N P D Q L L T Q D V E K F C N S V p.200
. . | 08. . . . g.64915
GTCGATCTGTATTCAAATCTTAGTAAG | CCATTTTTAGACATAGTTTTGTATATCTTTAAG c.660
V D L Y S N L S K | P F L D I V L Y I F K p.220
. . | 09 . . . . g.67123
TTAACGAGTGCAATTGGAGCTCAG | GGCCCAGCGAGCATGATGGCCTACTTGGTTGTTTCT c.720
L T S A I G A Q | G P A S M M A Y L V V S p.240
. . . . . . g.67183
GGGCTATTCCTAACTCGACTTCGAAGACCCATTGGTAAGATGACAATAACTGAGCAAAAG c.780
G L F L T R L R R P I G K M T I T E Q K p.260
. . . . | 10. . g.69806
TATGAAGGAGAATATAGATATGTTAATTCTCGGCTCATCACAAACAG | TGAAGAAATTGCC c.840
Y E G E Y R Y V N S R L I T N S | E E I A p.280
. . . . . | 11. g.74168
TTTTACAATGGGAATAAAAGAGAAAAGCAGACAGTCCACTCAGTCTTCCGAAAACTG | GTG c.900
F Y N G N K R E K Q T V H S V F R K L | V p.300
. . . . . . g.74228
GAACACCTACATAATTTCATTTTGTTTCGGTTTTCAATGGGCTTCATTGATAGTATTATT c.960
E H L H N F I L F R F S M G F I D S I I p.320
| 12. . . . . . g.74370
GCCAAAT | ACCTTGCCACTGTTGTTGGTTACCTAGTTGTCAGTCGCCCTTTCTTAGATTTG c.1020
A K Y | L A T V V G Y L V V S R P F L D L p.340
. . . . | 13 . . g.74530
TCTCATCCTCGACATCTCAAGAGTACACATTCGGAACTTCTAGAG | GATTACTACCAAAGT c.1080
S H P R H L K S T H S E L L E | D Y Y Q S p.360
. . . . . . g.74590
GGAAGAATGCTTTTGCGAATGTCTCAAGCTCTGGGTCGAATAGTTTTGGCTGGGCGTGAA c.1140
G R M L L R M S Q A L G R I V L A G R E p.380
. | 14. . . . . g.76391
ATGACTAGATTGGCCGG | TTTTACTGCTCGGATTACAGAATTAATGCAAGTACTGAAGGAT c.1200
M T R L A G | F T A R I T E L M Q V L K D p.400
. . . . | 15 . g.76537
TTAAATCATGGCAAATATGAGCGCACAATGGTCTCACAACAGGAAAAGG | GTATTGAAGGA c.1260
L N H G K Y E R T M V S Q Q E K G | I E G p.420
. . . . . . g.76597
GTACAAGTCATTCCCTTGATACCTGGTGCTGGAGAAATCATTATTGCAGATAACATTATA c.1320
V Q V I P L I P G A G E I I I A D N I I p.440
| 16 . . . . . . g.77865
AA | GTTTGATCATGTTCCTTTAGCAACGCCAAATGGAGATGTTTTGATCCGAGACCTTAAT c.1380
K | F D H V P L A T P N G D V L I R D L N p.460
| 17 . . . . . . g.85279
TTTGAA | GTTCGATCTGGGGCTAATGTTCTAATTTGTGGTCCAAATGGCTGCGGAAAGAGT c.1440
F E | V R S G A N V L I C G P N G C G K S p.480
. . | 18 . . . . g.85442
TCACTTTTCCGTGTTCTTGGTGAA | TTATGGCCTCTTTTTGGAGGACGTCTAACTAAACCT c.1500
S L F R V L G E | L W P L F G G R L T K P p.500
. . . | 19 . . . g.85598
GAAAGAGGAAAATTATTTTATGTTCCTCAG | AGACCTTACATGACCCTTGGAACACTTCGA c.1560
E R G K L F Y V P Q | R P Y M T L G T L R p.520
. . . . . . g.85658
GATCAAGTGATATATCCAGATGGACGAGAAGATCAGAAAAGGAAGGGAATTTCTGACCTA c.1620
D Q V I Y P D G R E D Q K R K G I S D L p.540
| 20 . . . . . . g.86178
| GTACTGAAGGAATACTTAGACAATGTCCAGTTGGGTCATATCCTTGAACGTGAAGGAGGC c.1680
| V L K E Y L D N V Q L G H I L E R E G G p.560
. . . . . . g.86238
TGGGACAGTGTTCAGGATTGGATGGACGTACTCAGTGGTGGAGAAAAGCAAAGAATGGCG c.1740
W D S V Q D W M D V L S G G E K Q R M A p.580
| 21 . . . . . . g.93221
| ATGGCAAGATTATTTTATCATAAACCCCAGTTTGCCATTTTGGATGAATGCACAAGTGCA c.1800
| M A R L F Y H K P Q F A I L D E C T S A p.600
. . . . | 22 . . g.101784
GTTAGTGTCGACGTGGAAGGCTACATTTATAGTCATTGTCGAAAG | GTTGGCATCACTCTC c.1860
V S V D V E G Y I Y S H C R K | V G I T L p.620
. . . . | 23 . . g.103693
TTCACTGTGTCTCATAGGAAATCTCTTTGGAAACATCATGAG | TACTACCTGCATATGGAT c.1920
F T V S H R K S L W K H H E | Y Y L H M D p.640
. . . . . . g.103753
GGCAGAGGCAACTATGAATTCAAACAGATAACAGAAGATACAGTTGAGTTTGGCTCTTAG c.1980
G R G N Y E F K Q I T E D T V E F G S X p.659
. . . . . . g.103813
agaaatctggagaactatacctgcttcagtgaaataattacagaatatacttagaaaggc c.*60
. . . . . . g.103873
aaagtacattgtaaaataaagttgagcttagttttttttaaaaaaaaaaacaaagcaaca c.*120
. . . . . . g.103933
aattaactagatacagaataatggagaacaagttgttaaaacatttaatattatatagga c.*180
. . . . . . g.103993
tattgctaattgtgtatatgttggtttaattaataatatgtactaagaatgtccttattc c.*240
. . . . . . g.104053
ttgtggttaaaaacctgcctaaattaaattgggcttcaatcactgtaacctgattcatcc c.*300
. . . . . . g.104113
tgggatgtaaaccattcgaagtcagctaattggacttttatggctctatcttttccttca c.*360
. . . . . . g.104173
gtgaagaaccctatttaaaactgggtcatcatttgtcctgttctagcaagatagtcttca c.*420
. . . . . . g.104233
gtttcattttcctgtgccctgtggtagttggaaacaaatcataatgtattatttaaatgt c.*480
. . . . . . g.104293
ttaacatcattgcataacagcgtttattatacagtggcagatttctttagctgccacagt c.*540
. . . . . . g.104353
aatactcattccttgtgtgtgtcttggagtgcatttgactccaggaaaagccattttggt c.*600
. . . . . . g.104413
tttccttaactaaatgataaatgtacccctctcagtctgcagtattgagttgtttaaagt c.*660
. . . . . . g.104473
atatgtgcagtcttgcttacaaggaggggttaccatgtatcacacctaatcttcccaatg c.*720
. . . . . . g.104533
tttgggatattaaaacacaaagtccttaacatgccaggctcaaggtcttataagagttct c.*780
. . . . . . g.104593
agatttttaagagaattagacaaatttgtgtgtgttagaagcccattcattagaagtgtg c.*840
. . . . . . g.104653
gtggttatttggtattaaactccaaatgagccataggaaggcactacatgaaataatgca c.*900
. . . . . . g.104713
ctgagtatgcaatgctatcactgtctttgactgtgattttatgtttaaaaagtatgttct c.*960
. . . . . . g.104773
aaaattattatatatacatgggtgaattatgtttccgaggcactgttttatctctgtgaa c.*1020
. . . . . . g.104833
tcttgaataacttttttatatttgggttatgatgtcaaacgatcctaagcgaagatgatt c.*1080
. . . . . . g.104893
tcagttcatcaaatcatcattaatgactttatgtattatttgcacagggagaattgaaac c.*1140
. . . . . . g.104953
tgagtataatcaataagctagatacgaaatcagtttctcaaactgagcttcagaaagggg c.*1200
. . . . . . g.105013
cattttgtactcttgtttttgcataactggttttgtttttttgcagaattaactataaca c.*1260
. . . . . . g.105073
atcactggctaccgaagtaaactgatgtactgaattccataatacataacattcaatttt c.*1320
. . . . . . g.105133
taccacttctgtttagcgaacttgtatacttattttctgttcagattaaaaaaaaaaaaa c.*1380
. . . . . . g.105193
aaaaactcagatatcctatacaacctttgcttgttctttttattctggtatctaaatact c.*1440
. . . . . . g.105253
gagaagttcatttataattcagccttgacttgaaaacatagatagtttaatcttgacttg c.*1500
. . . g.105287
aaaaacacaaaaataaattcagaaaatgctttta c.*1534
(downstream sequence)
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