(used for variant description)
(last modified October 12, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000182.4 in the HADHA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007121.1, covering HADHA transcript NM_000182.4.
(upstream sequence)
. g.4905
cggccactcg c.-121
. . . . . . g.4965
gcatctgggttttagtcaggcagtgctccaggcgcctggctgccaggctacgggagaaaa c.-61
. . . . . . g.5025
gtcctccgctcggccgcacccgttagaggcgctctccactgctgtcctcttcagctcaag c.-1
. . . . . . g.5085
ATGGTGGCCTGCCGGGCGATTGGCATCCTCAGCCGCTTTTCTGCCTTCAGGATCCTCCGC c.60
M V A C R A I G I L S R F S A F R I L R p.20
| 02. . . . | 03 . g.10628
TCCCGAG | GTTATATATGCCGCAATTTTACAGGGTCTTCTGCTTTGCTGA | CCAGAACCCAT c.120
S R G | Y I C R N F T G S S A L L T | R T H p.40
. . . . . . g.10688
ATTAACTATGGAGTCAAAGGGGATGTGGCAGTTGTTCGAATTAACTCTCCCAATTCAAAG c.180
I N Y G V K G D V A V V R I N S P N S K p.60
| 04 . . . . . . g.12693
| GTAAATACACTGAGTAAAGAGCTACATTCAGAGTTCTCAGAAGTTATGAATGAAATCTGG c.240
| V N T L S K E L H S E F S E V M N E I W p.80
. . . . . . g.12753
GCTAGTGATCAAATCAGAAGTGCCGTCCTTATCTCATCAAAGCCAGGCTGCTTTATTGCA c.300
A S D Q I R S A V L I S S K P G C F I A p.100
. | 05 . . . . . g.15312
GGTGCTGATATCAA | CATGTTAGCCGCTTGCAAGACCCTTCAAGAAGTAACACAGCTATCA c.360
G A D I N | M L A A C K T L Q E V T Q L S p.120
. . . . . . g.15372
CAAGAAGCACAGAGAATAGTTGAGAAACTTGAAAAGTCCACAAAGCCTATTGTGGCTGCC c.420
Q E A Q R I V E K L E K S T K P I V A A p.140
. . . | 06 . . . g.17369
ATCAATGGATCCTGCCTGGGAGGAGGACTTGAG | GTTGCCATTTCATGCCAATACAGAATA c.480
I N G S C L G G G L E | V A I S C Q Y R I p.160
. . . . . . g.17429
GCAACAAAAGACAGAAAAACAGTATTAGGTACCCCTGAAGTTTTGCTGGGGGCCTTACCA c.540
A T K D R K T V L G T P E V L L G A L P p.180
. . . | 07 . . . g.19354
GGAGCAGGAGGCACACAAAGGCTGCCCAAAATG | GTGGGTGTGCCTGCTGCTTTGGACATG c.600
G A G G T Q R L P K M | V G V P A A L D M p.200
. . . . . . g.19414
ATGCTGACTGGTAGAAGCATTCGTGCAGACAGGGCAAAGAAAATGGGACTGGTTGACCAA c.660
M L T G R S I R A D R A K K M G L V D Q p.220
. | 08 . . . . . g.34489
CTGGTGGAACCCCTGG | GACCAGGACTAAAACCTCCAGAGGAACGGACAATAGAATACCTA c.720
L V E P L G | P G L K P P E E R T I E Y L p.240
. . . . . . g.34549
GAAGAAGTTGCAATTACTTTTGCCAAAGGACTAGCTGATAAGAAGATCTCTCCAAAGAGA c.780
E E V A I T F A K G L A D K K I S P K R p.260
. | 09 . . . . g.35100
GACAAGGGATTGGTGGAAA | AATTGACAGCGTATGCCATGACTATTCCATTTGTCAGGCAA c.840
D K G L V E K | L T A Y A M T I P F V R Q p.280
. . . . . . g.35160
CAGGTTTACAAAAAAGTGGAAGAAAAAGTGCGAAAGCAGACTAAAGGCCTTTATCCTGCA c.900
Q V Y K K V E E K V R K Q T K G L Y P A p.300
. | 10 . . . . g.37036
CCTCTGAAAATAATTGAT | GTGGTAAAGACTGGAATTGAGCAAGGGAGTGATGCCGGTTAT c.960
P L K I I D | V V K T G I E Q G S D A G Y p.320
. | 11 . . . . . g.39776
CTCTGTGAATCTCAG | AAATTTGGAGAGCTTGTAATGACCAAAGAATCAAAGGCCTTGATG c.1020
L C E S Q | K F G E L V M T K E S K A L M p.340
. . . . . . g.39836
GGACTCTACCATGGTCAGGTCCTGTGCAAGAAGAATAAATTTGGAGCTCCACAGAAGGAT c.1080
G L Y H G Q V L C K K N K F G A P Q K D p.360
| 12 . . . . . . g.45479
GTTAA | GCATCTGGCTATTCTTGGTGCAGGGCTGATGGGAGCAGGCATCGCCCAAGTCTCC c.1140
V K | H L A I L G A G L M G A G I A Q V S p.380
. . . . . . g.45539
GTGGATAAGGGGCTAAAGACTATACTTAAAGATGCCACCCTCACTGCGCTAGACCGAGGA c.1200
V D K G L K T I L K D A T L T A L D R G p.400
. . | 13 . . . . g.48340
CAGCAACAAGTGTTCAAAGG | ATTGAATGACAAAGTGAAGAAGAAAGCTCTAACATCATTT c.1260
Q Q Q V F K G | L N D K V K K K A L T S F p.420
. . . . . . g.48400
GAAAGGGATTCCATCTTCAGCAACTTGACTGGGCAGCTTGATTACCAAGGTTTTGAAAAG c.1320
E R D S I F S N L T G Q L D Y Q G F E K p.440
. . . . . . g.48460
GCCGACATGGTGATTGAAGCTGTGTTTGAGGACCTTAGTCTTAAGCACAGAGTGCTAAAG c.1380
A D M V I E A V F E D L S L K H R V L K p.460
. | 14 . . . . . g.51891
GAAGTAGAAGCG | GTGATTCCAGATCACTGTATCTTTGCCAGTAACACATCTGCTCTCCCA c.1440
E V E A | V I P D H C I F A S N T S A L P p.480
. . . | 15 . . g.54409
ATCAGTGAAATCGCTGCTGTCAGCAAAAGACCTGAGAAG | GTGATTGGCATGCACTACTTC c.1500
I S E I A A V S K R P E K | V I G M H Y F p.500
. . . . . . g.54469
TCTCCCGTGGACAAGATGCAGCTGCTGGAGATTATCACGACCGAGAAAACTTCCAAAGAC c.1560
S P V D K M Q L L E I I T T E K T S K D p.520
. . . . . . g.54529
ACCAGTGCTTCAGCTGTAGCAGTTGGTCTCAAGCAGGGGAAGGTCATCATTGTGGTTAAG c.1620
T S A S A V A V G L K Q G K V I I V V K p.540
| 16 . . . . . . g.55042
| GATGGACCTGGCTTCTATACTACCAGGTGTCTTGCGCCCATGATGTCTGAAGTCATCCGA c.1680
| D G P G F Y T T R C L A P M M S E V I R p.560
| 17 . . . . . g.55899
ATCCTCCAG | GAAGGAGTTGACCCGAAGAAGCTGGATTCCCTGACCACAAGCTTTGGCTTT c.1740
I L Q | E G V D P K K L D S L T T S F G F p.580
. . . . . . g.55959
CCTGTGGGTGCCGCCACACTGGTGGATGAAGTTGGTGTGGATGTAGCGAAACATGTGGCG c.1800
P V G A A T L V D E V G V D V A K H V A p.600
. . . . . . g.56019
GAAGATCTGGGCAAAGTCTTTGGGGAGCGGTTTGGAGGTGGAAACCCAGAACTGCTGACA c.1860
E D L G K V F G E R F G G G N P E L L T p.620
. . | 18 . . . . g.57231
CAGATGGTGTCCAAGGGCTTCCTAG | GTCGTAAATCTGGGAAGGGCTTTTACATCTATCAG c.1920
Q M V S K G F L G | R K S G K G F Y I Y Q p.640
. . . . . . g.57291
GAGGGTGTGAAGAGGAAGGATTTGAATTCTGACATGGATAGTATTTTAGCGAGTCTGAAG c.1980
E G V K R K D L N S D M D S I L A S L K p.660
. . | 19 . . . . g.58032
CTGCCTCCTAAGTCTGAAGT | CTCATCAGACGAAGACATCCAGTTCCGCCTGGTGACAAGA c.2040
L P P K S E V | S S D E D I Q F R L V T R p.680
. . . . . . g.58092
TTTGTGAATGAGGCAGTCATGTGCCTGCAAGAGGGGATCTTGGCCACACCTGCAGAGGGA c.2100
F V N E A V M C L Q E G I L A T P A E G p.700
. . . . | 20 . . g.58239
GACATCGGAGCCGTCTTTGGGCTTGGCTTCCCGCCTTGTCTGGGAG | GGCCTTTCCGCTTT c.2160
D I G A V F G L G F P P C L G G | P F R F p.720
. . . . . . g.58299
GTGGATCTGTATGGCGCCCAGAAGATAGTGGACCGGCTCAAGAAATATGAAGCTGCCTAT c.2220
V D L Y G A Q K I V D R L K K Y E A A Y p.740
. . . . . . g.58359
GGAAAACAGTTCACCCCATGCCAGCTGCTAGCTGACCATGCTAACAGCCCTAACAAGAAG c.2280
G K Q F T P C Q L L A D H A N S P N K K p.760
. g.58371
TTCTACCAGTGA c.2292
F Y Q X p.763
. . . . . . g.58431
gcaggcctcatgcctcgctcagtcagtgcactaaccccagctgccggcagtgctggttct c.*60
. . . . . . g.58491
ccaacagagtggtgtctagatttatcagagtaacgagaagacaaactccggcactgggtt c.*120
. . . . . . g.58551
tgctccctgattaaagtgccttcagccaagaccatctctccctcctggtgaagtgtgact c.*180
. . . . . . g.58611
tcgaattagtttgcacttcctgttggaaggtagagcccactgctcattgtataagccccg c.*240
. . . . . . g.58671
aggcctagagtggcagccaagagccatctgaagccacctctctgcctgttcctcccaaga c.*300
. . . . . . g.58731
ggccagggtggccaggggtggtgagggcagttctgcacccagccaaacacataacaataa c.*360
. . . . . . g.58791
aaaccaaactctgtgtcagcatctttgcccttctggtttaaacgcctccttcaaaaagca c.*420
. . . . . . g.58851
atctggaagaaagccctgtgctttgggggagtaagaatgtgtgtgcagaattctaggcag c.*480
. . . . . . g.58911
caccttagggagggactgggatgagagaaagtgggacctggtgggctcaaccacacacac c.*540
. . . . . . g.58971
ctgtctgtgcagatgctttgcccaggcttctcaccacggtgtaccgggatattaaacctc c.*600
. g.58986
tttccccagcctgga c.*615
(downstream sequence)
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