(used for variant description)
(last modified October 28, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000018.3 in the ACADVL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007975.1, covering ACADVL transcript NM_000018.3.
(upstream sequence)
. . . g.5031
aactacagctcccagcatgccccggggcccgcaa c.-121
. . . . . . g.5091
ccgtccgccgcccggtgcactgtggacgatgagtcagggttaggggcgccaggacgtggg c.-61
. . . . . . g.5151
cgtgcaggacgccagagctgggtcagagctcgagccagcggcgcccggagagattcggag c.-1
. . . . . . g.5211
ATGCAGGCGGCTCGGATGGCCGCGAGCTTGGGGCGGCAGCTGCTGAGGCTCGGGGGCGGA c.60
M Q A A R M A A S L G R Q L L R L G G G p.20
| 02 . . . . . . g.5346
AG | CTCGCGGCTCACGGCGCTCCTGGGGCAGCCCCGGCCCGGCCCTGCCCGGCGGCCCTAT c.120
S | S R L T A L L G Q P R P G P A R R P Y p.40
. | 03 . . . . g.5672
GCCGGGGGTGCCGCTCAG | CTGGCTCTGGACAAGTCAGATTCCCACCCCTCTGACGCTCTG c.180
A G G A A Q | L A L D K S D S H P S D A L p.60
. . | 04 . . . . g.5806
ACCAGGAAAAAACCGGCCAAGGCG | GAATCTAAGTCCTTTGCTGTGGGAATGTTCAAAGGC c.240
T R K K P A K A | E S K S F A V G M F K G p.80
. . . | 05. . . g.5955
CAGCTCACCACAGATCAGGTGTTCCCATACCCGTCCG | TGCTCAACGAAGAGCAGACACAG c.300
Q L T T D Q V F P Y P S V | L N E E Q T Q p.100
. . . . | 06 . . g.6108
TTTCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAG | GAAGTGAACGATCCCGCC c.360
F L K E L V E P V S R F F E | E V N D P A p.120
. . . . . . g.6168
AAGAATGACGCTCTGGAGATGGTGGAGGAGACCACTTGGCAGGGCCTCAAGGAGCTGGGG c.420
K N D A L E M V E E T T W Q G L K E L G p.140
. . . . . | 07. g.6707
GCCTTTGGTCTGCAAGTGCCCAGTGAGCTGGGTGGTGTGGGCCTTTGCAACACCCAG | TAC c.480
A F G L Q V P S E L G G V G L C N T Q | Y p.160
. . . . . . g.6767
GCCCGTTTGGTGGAGATCGTGGGCATGCATGACCTTGGCGTGGGCATTACCCTGGGGGCC c.540
A R L V E I V G M H D L G V G I T L G A p.180
. . . . . . g.6827
CATCAGAGCATCGGTTTCAAAGGCATCCTGCTCTTTGGCACAAAGGCCCAGAAAGAAAAA c.600
H Q S I G F K G I L L F G T K A Q K E K p.200
. . | 08 . . . . g.7156
TACCTCCCCAAGCTGGCATCTG | GGGAGACTGTGGCCGCTTTCTGTCTAACCGAGCCCTCA c.660
Y L P K L A S G | E T V A A F C L T E P S p.220
. . . . . . g.7216
AGCGGGTCAGATGCAGCCTCCATCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATAC c.720
S G S D A A S I R T S A V P S P C G K Y p.240
. . . | 09 . . . g.7371
TATACCCTCAATGGAAGCAAGCTTTGGATCAG | TAATGGGGGCCTAGCAGACATCTTCACG c.780
Y T L N G S K L W I S | N G G L A D I F T p.260
. . . . . . g.7431
GTCTTTGCCAAGACACCAGTTACAGATCCAGCCACAGGAGCCGTGAAGGAGAAGATCACA c.840
V F A K T P V T D P A T G A V K E K I T p.280
. . . | 10 . . g.7855
GCTTTTGTGGTGGAGAGGGGCTTCGGGGGCATTACCCA | TGGGCCCCCTGAGAAGAAGATG c.900
A F V V E R G F G G I T H | G P P E K K M p.300
. . . . . . g.7915
GGCATCAAGGCTTCAAACACAGCAGAGGTGTTCTTTGATGGAGTACGGGTGCCATCGGAG c.960
G I K A S N T A E V F F D G V R V P S E p.320
. . . . . . g.7975
AACGTGCTGGGTGAGGTTGGGAGTGGCTTCAAGGTTGCCATGCACATCCTCAACAATGGA c.1020
N V L G E V G S G F K V A M H I L N N G p.340
. . . . . | 11. g.8302
AGGTTTGGCATGGCTGCGGCCCTGGCAGGTACCATGAGAGGCATCATTGCTAAGGCG | GTA c.1080
R F G M A A A L A G T M R G I I A K A | V p.360
. . . . . . g.8362
GATCATGCCACTAATCGTACCCAGTTTGGGGAGAAAATTCACAACTTTGGGCTGATCCAG c.1140
D H A T N R T Q F G E K I H N F G L I Q p.380
. . . . | 12 . . g.8828
GAGAAGCTGGCACGGATGGTTATGCTGCAGTATGTAACTGAG | TCCATGGCTTACATGGTG c.1200
E K L A R M V M L Q Y V T E | S M A Y M V p.400
. . . . . . g.8888
AGTGCTAACATGGACCAGGGAGCCACGGACTTCCAGATAGAGGCCGCCATCAGCAAAATC c.1260
S A N M D Q G A T D F Q I E A A I S K I p.420
| 13 . . . . . g.9030
TTTGGCTCG | GAGGCAGCCTGGAAGGTGACAGATGAATGCATCCAAATCATGGGGGGTATG c.1320
F G S | E A A W K V T D E C I Q I M G G M p.440
. | 14 . . . . . g.9182
GGCTTCATGAAG | GAACCTGGAGTAGAGCGTGTGCTCCGAGATCTTCGCATCTTCCGGATC c.1380
G F M K | E P G V E R V L R D L R I F R I p.460
. . . . . | 15 . g.9318
TTTGAGGGGACAAATGACATTCTTCGGCTGTTTGTGGCTCTGCAGGGCTGTATG | GACAAA c.1440
F E G T N D I L R L F V A L Q G C M | D K p.480
. . . . . . g.9378
GGAAAGGAGCTCTCTGGGCTTGGCAGTGCTCTAAAGAATCCCTTTGGGAATGCTGGCCTC c.1500
G K E L S G L G S A L K N P F G N A G L p.500
. . . | 16 . . . g.9515
CTGCTAGGAGAGGCAGGCAAACAGCTGAGGCG | GCGGGCAGGGCTGGGCAGCGGCCTGAGT c.1560
L L G E A G K Q L R R | R A G L G S G L S p.520
. . . . | 17 . . g.9661
CTCAGCGGACTTGTCCACCCGGAGTTGAGTCGGAGTGGCGAGCTG | GCAGTACGGGCTCTG c.1620
L S G L V H P E L S R S G E L | A V R A L p.540
. . . . . | 18 g.9810
GAGCAGTTTGCCACTGTGGTGGAGGCCAAGCTGATAAAACACAAGAAGGGGATTGTCA | AT c.1680
E Q F A T V V E A K L I K H K K G I V N | p.560
. . . . . . g.9870
GAACAGTTTCTGCTGCAGCGGCTGGCAGACGGGGCCATCGACCTCTATGCCATGGTGGTG c.1740
E Q F L L Q R L A D G A I D L Y A M V V p.580
. | 19 . . . . . g.10024
GTTCTCTCGAG | GGCCTCAAGATCCCTGAGTGAGGGCCACCCCACGGCCCAGCATGAGAAA c.1800
V L S R | A S R S L S E G H P T A Q H E K p.600
. . | 20. . . . g.10156
ATGCTCTGTGACACCTGGTGTATCGAG | GCTGCAGCTCGGATCCGAGAGGGCATGGCCGCC c.1860
M L C D T W C I E | A A A R I R E G M A A p.620
. . . . . . g.10216
CTGCAGTCTGACCCCTGGCAGCAAGAGCTCTACCGCAACTTCAAAAGCATCTCCAAGGCC c.1920
L Q S D P W Q Q E L Y R N F K S I S K A p.640
. . . . g.10264
TTGGTGGAGCGGGGTGGTGTGGTCACCAGCAACCCACTTGGCTTCTGA c.1968
L V E R G G V V T S N P L G F X p.655
. . . . . . g.10324
atactcccggccagggcctgtcccagttatgtgccttccctcaagccaaagccgaagccc c.*60
. . . . . . g.10384
ctttccttaaggccctggtttgtcccgaaggggcctagtgttcccagcactgtgcctgct c.*120
. . . . . g.10434
ctcaagagcacttactgcctcgcaaataataaaaatttctagccagtcat c.*170
(downstream sequence)
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