(used for variant description)
(last modified September 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_014049.4 in the ACAD9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering ACAD9 transcript NM_014049.4.
(upstream sequence)
. . g.5022
aggtgcacgtgactaaggcctt c.-181
. . . . . . g.5082
gggcgcggcaggtggtagccttcccgcccttctggcctctccatcccctgctgcggggga c.-121
. . . . . . g.5142
ccgcgcaagcgcagtgagtactgcacgttgtcgcgggccagtaacgtcatcagacgtgtg c.-61
. . . . . . g.5202
tgtgtccctgcggcgctaagaaggggagactgaggctgaggctggggaacatcgggcagc c.-1
. . . . . . g.5262
ATGAGCGGCTGCGGGCTCTTCCTGCGCACCACGGCTGCGGCTCGTGCCTGCCGGGGTCTG c.60
M S G C G L F L R T T A A A R A C R G L p.20
. . . . . . g.5322
GTGGTCTCTACCGCGAACCGGCGGCTACTGCGCACCAGCCCGCCTGTACGAGCTTTCGCC c.120
V V S T A N R R L L R T S P P V R A F A p.40
. . . | 02 . . . g.10193
AAAGAGCTTTTCCTAGGCAAAATCAAGAAG | AAAGAAGTTTTCCCATTTCCAGAAGTTAGC c.180
K E L F L G K I K K | K E V F P F P E V S p.60
. . . . . . g.10253
CAAGATGAACTTAATGAAATCAATCAGTTCTTGGGACCCGTGGAAAAATTCTTCACTGAA c.240
Q D E L N E I N Q F L G P V E K F F T E p.80
| 03 . . . . . . g.19121
GAGG | TGGACTCCCGAAAAATTGACCAGGAAGGGAAAATCCCAGATGAAACTTTGGAGAAA c.300
E V | D S R K I D Q E G K I P D E T L E K p.100
. . . . | 04 . . g.20834
TTGAAGAGCCTAGGGCTTTTTGGGCTGCAAGTCCCAGAAGAATATG | GTGGCCTGGGCTTC c.360
L K S L G L F G L Q V P E E Y G | G L G F p.120
. . . . . . g.20894
TCCAACACCATGTACTCAAGACTAGGGGAGATCATCAGCATGGATGGGTCCATCACTGTG c.420
S N T M Y S R L G E I I S M D G S I T V p.140
. . . | 05 . . . g.21973
ACCCTGGCAGCGCACCAGGCTATTGGCCTCAAG | GGGATCATCTTGGCTGGCACTGAGGAG c.480
T L A A H Q A I G L K | G I I L A G T E E p.160
. . . . . . g.22033
CAGAAAGCCAAATACTTGCCTAAACTGGCGTCCGGGGAGCACATTGCAGCCTTCTGCCTC c.540
Q K A K Y L P K L A S G E H I A A F C L p.180
. | 06 . . . . . g.23188
ACGGAGCCAGCCAG | TGGGAGCGATGCAGCCTCAATCCGGAGCAGAGCCACACTAAGTGAA c.600
T E P A S | G S D A A S I R S R A T L S E p.200
. . . | 07 . . . g.24824
GACAAGAAGCACTACATCCTCAATGGCTCCAAG | GTCTGGATTACTAATGGAGGACTGGCC c.660
D K K H Y I L N G S K | V W I T N G G L A p.220
. . . . . . g.24884
AATATTTTTACTGTGTTTGCAAAGACTGAGGTCGTTGATTCTGATGGATCAGTGAAAGAC c.720
N I F T V F A K T E V V D S D G S V K D p.240
. . . . . . g.24944
AAAATCACAGCATTCATAGTAGAAAGAGACTTTGGTGGAGTCACTAATGGGAAACCCGAA c.780
K I T A F I V E R D F G G V T N G K P E p.260
. . | 08 . . . g.26818
GATAAATTAGGCATTCGGGGCTCCAACA | CTTGTGAAGTCCATTTTGAAAACACCAAGATA c.840
D K L G I R G S N T | C E V H F E N T K I p.280
. . . . | 09 . . g.28081
CCTGTGGAAAACATCCTTGGAGAGGTCGGAGATGGGTTTAAG | GTGGCCATGAACATCCTC c.900
P V E N I L G E V G D G F K | V A M N I L p.300
. . . . . | 10 g.29574
AACAGCGGCCGGTTCAGCATGGGCAGCGTCGTGGCTGGGCTGCTCAAGAGATTGATTG | AA c.960
N S G R F S M G S V V A G L L K R L I E | p.320
. . . . . . g.29634
ATGACTGCTGAGTACGCCTGCACAAGGAAACAGTTTAACAAGAGGCTCAGTGAATTTGGA c.1020
M T A E Y A C T R K Q F N K R L S E F G p.340
| 11 . . . . . g.29947
TTGATTCAG | GAGAAATTTGCACTGATGGCTCAGAAGGCTTACGTCATGGAGAGTATGACC c.1080
L I Q | E K F A L M A Q K A Y V M E S M T p.360
. . . . . . g.30007
TACCTCACAGCAGGGATGCTGGACCAACCTGGCTTTCCCGACTGCTCCATCGAGGCAGCC c.1140
Y L T A G M L D Q P G F P D C S I E A A p.380
| 12 . . . . . g.31682
ATGGTGAAG | GTGTTCAGCTCCGAGGCCGCCTGGCAGTGTGTGAGTGAGGCGCTGCAGATC c.1200
M V K | V F S S E A A W Q C V S E A L Q I p.400
. . . . . . g.31742
CTCGGGGGCTTGGGCTACACAAGGGACTATCCGTACGAGCGCATACTGCGTGACACCCGC c.1260
L G G L G Y T R D Y P Y E R I L R D T R p.420
. | 13 . . . . g.33737
ATCCTCCTCATCTTCGAG | GGAACCAATGAGATTCTCCGGATGTACATCGCCCTGACGGGT c.1320
I L L I F E | G T N E I L R M Y I A L T G p.440
. . . | 14 . . g.34505
CTGCAGCATGCCGGCCGCATCCTGACTACCAGGATCCA | TGAGCTTAAACAGGCCAAAGTG c.1380
L Q H A G R I L T T R I H | E L K Q A K V p.460
. . . . . . g.34565
AGCACAGTCATGGATACCGTTGGCCGGAGGCTTCGGGACTCCCTGGGCCGAACTGTGGAC c.1440
S T V M D T V G R R L R D S L G R T V D p.480
. . . . | 15 . . g.34869
CTGGGGCTGACAGGCAACCATGGAGTTGTGCACCCCAGTCTTGCG | GACAGTGCCAACAAG c.1500
L G L T G N H G V V H P S L A | D S A N K p.500
. . . . . . g.34929
TTTGAGGAGAACACCTACTGCTTCGGCCGGACCGTGGAGACACTGCTGCTCCGCTTTGGC c.1560
F E E N T Y C F G R T V E T L L L R F G p.520
| 16 . . . . . . g.35588
AAG | ACCATCATGGAGGAGCAGCTGGTACTGAAGCGGGTGGCCAACATCCTCATCAACCTG c.1620
K | T I M E E Q L V L K R V A N I L I N L p.540
. . . . . . g.35648
TATGGCATGACGGCCGTGCTGTCGCGGGCCAGCCGCTCCATCCGCATTGGGCTCCGCAAC c.1680
Y G M T A V L S R A S R S I R I G L R N p.560
. | 17 . . . . . g.36299
CACGACCACGAG | GTTCTCTTGGCCAACACCTTCTGCGTGGAAGCTTACTTGCAGAATCTC c.1740
H D H E | V L L A N T F C V E A Y L Q N L p.580
. . | 18 . . . . g.38052
TTCAGCCTCTCTCAGCTGGACAAGT | ATGCTCCAGAAAACCTAGATGAGCAGATTAAGAAA c.1800
F S L S Q L D K Y | A P E N L D E Q I K K p.600
. . . . . . g.38112
GTGTCCCAGCAGATCCTTGAGAAGCGAGCCTATATCTGTGCCCACCCTCTGGACAGGACA c.1860
V S Q Q I L E K R A Y I C A H P L D R T p.620
g.38118
TGCTGA c.1866
C X p.621
. . . . . . g.38178
ggcaggggacagtgtcccctgctaccgcccgcccctacccatggcccgttgctggatgac c.*60
. . . . . . g.38238
tgttactcttttttcagaaggtgttgggattatcacaggttaagccttttgttccccgtc c.*120
. . . . . . g.38298
tgcacctgaagggttgtcgcctggcctgggagagcctcttccaggttttgacctgcaggc c.*180
. . . . . . g.38358
agtgctctctaacaggaccatcacagcttctgaactgagccggagagagagaatggaatt c.*240
. . . . . . g.38418
gctgacccctggaactggcgggtattctggtcattgaggagacaccatagtggaaactgg c.*300
. . . . . . g.38478
ggcttatgctgctgcctccagggtgtgaggtgggtggggacctgtgtcaggtgtggatag c.*360
. . . . . . g.38538
ccatttctgctcaaccacacattctctaagaaacagcttgaaagctctgtctgggtcatt c.*420
. . . . . . g.38598
catttaaactagaagcagaggcacttaaaacatgtaccaggaaccatttaacaaagaata c.*480
. . g.38625
taaaatgtcacaatctgtgtactgtta c.*507
(downstream sequence)
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