(used for mutation description)
(last modified November 13, 2010)
This file was created to facilitate the description of sequence variants in the DTNA gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_009201.1, covering DTNA transcript NM_001390.4, extended with 5' exons 1 and 2 taken from NM_032975.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . g.5051
aggatgagatcatagtttcaggatcctcaggaaaccctggtactggcagca c.-301
. . . . . . g.5111
gccagcctctgctgtgcccacatgacccacaactctggcagcggacccggcacttccaac c.-241
. . . . . . g.5171
attattaaataataagaaagcggctcctactccaggctcaaacctccctgcagaccaatg c.-181
. . . . . . | 02 g.191184
gacaccttctaagagtttggcgagtcagtgactgaagcgcccgtccattccaag | ataaat c.-121
. . . . . . g.191244
aggatttaccaatccttggatgaagtgcttgggaagtctttaagtgccataatcaactgc c.-61
. . . . . . | 03 g.267687
catttcaaagaatatagatggttttgaaaagttcatgctgtcccttcattgaattttag | a c.-1
. . . . . . g.267747
ATGATTGAAGATAGTGGGAAAAGAGGAAATACCATGGCAGAAAGAAGACAGCTGTTTGCA c.60
M I E D S G K R G N T M A E R R Q L F A p.20
| 04. . . . . . g.277724
GAGATGA | GGGCTCAAGATCTGGATCGCATCCGACTCTCCACCTACAGAACAGCATGCAAG c.120
E M R | A Q D L D R I R L S T Y R T A C K p.40
. . | 05 . . . g.305779
CTTAGGTTTGTTCAGAAGAAATGCAATT | TGCACCTGGTGGACATATGGAATGTCATAGAA c.180
L R F V Q K K C N L | H L V D I W N V I E p.60
. . . . . . g.305839
GCATTGCGGGAAAATGCTCTGAACAACCTGGACCCAAACACTGAACTCAACGTGTCCCGC c.240
A L R E N A L N N L D P N T E L N V S R p.80
. . . . . . g.305899
TTAGAGGCTGTGCTCTCCACTATTTTTTACCAGCTCAACAAACGGATGCCAACCACTCAC c.300
L E A V L S T I F Y Q L N K R M P T T H p.100
. . . . . . g.305959
CAAATCCATGTGGAGCAGTCCATCAGCCTCCTCCTTAACTTCCTGCTTGCAGCGTTTGAT c.360
Q I H V E Q S I S L L L N F L L A A F D p.120
| 06 . . . . . . g.317987
CC | GGAAGGCCATGGTAAAATTTCAGTATTTGCTGTCAAAATGGCTTTAGCCACATTGTGT c.420
P | E G H G K I S V F A V K M A L A T L C p.140
. . | 07 . . . g.323701
GGAGGGAAGATCATGGACAAATTAAGAT | ATATTTTCTCAATGATTTCTGACTCCAGTGGG c.480
G G K I M D K L R Y | I F S M I S D S S G p.160
. . . . . . g.323761
GTGATGGTTTATGGACGATATGACCAATTCCTTCGGGAAGTTCTCAAACTACCCACGGCA c.540
V M V Y G R Y D Q F L R E V L K L P T A p.180
. . . . . . g.323821
GTTTTTGAAGGTCCTTCATTTGGTTACACAGAACAGTCAGCCAGATCCTGTTTCTCCCAA c.600
V F E G P S F G Y T E Q S A R S C F S Q p.200
| 08 . . . . . . g.327676
CAG | AAAAAAGTCACGTTAAATGGTTTCTTGGACACGCTTATGTCAGATCCTCCCCCGCAG c.660
Q | K K V T L N G F L D T L M S D P P P Q p.220
. . . . | 09 . g.329885
TGTCTGGTCTGGTTGCCTCTTCTGCATCGACTAGCAAATGTGGAAAATG | TCTTCCATCCG c.720
C L V W L P L L H R L A N V E N V | F H P p.240
. . . . . . g.329945
GTTGAGTGTTCCTACTGCCACAGTGAGAGTATGATGGGATTTCGCTACCGATGCCAACAG c.780
V E C S Y C H S E S M M G F R Y R C Q Q p.260
. . . . . . g.330005
TGTCACAATTACCAGCTCTGTCAGGACTGCTTCTGGAGGGGACATGCCGGTGGTTCTCAT c.840
C H N Y Q L C Q D C F W R G H A G G S H p.280
. . . | 10 . . . g.332525
AGCAACCAGCACCAAATGAAAGAGTACACGTCATGG | AAATCACCTGCTAAGAAGCTGACT c.900
S N Q H Q M K E Y T S W | K S P A K K L T p.300
. . . . . . g.332585
AATGCATTAAGCAAGTCCCTGAGCTGTGCTTCCAGCCGTGAACCTTTGCACCCCATGTTC c.960
N A L S K S L S C A S S R E P L H P M F p.320
. . . . | 11 . | 12 . g.339313
CCAGATCAGCCTGAGAAGCCACTCAACTTGGCTCACATCGT | TGATACTTG | GCCTCCCAGA c.1020
P D Q P E K P L N L A H I V | D T W | P P R p.340
. . . . . . g.339373
CCTGTAACCAGCATGAACGACACCCTGTTCTCCCACTCTGTTCCCTCCTCAGGAAGTCCT c.1080
P V T S M N D T L F S H S V P S S G S P p.360
. | 13 . . . . . g.349850
TTTATTACCAGGAG | CTCTCCTCCCAAGGACAGTGAAGTAGAGCAGAACAAACTGCTGGCT c.1140
F I T R S | S P P K D S E V E Q N K L L A p.380
. . . | 14 . . . g.350483
AGGGCTGCTCCAGCTTTTCTGAAGGGCAAAGG | GATACAGTACAGCCTGAATGTGGCAGAC c.1200
R A A P A F L K G K G | I Q Y S L N V A D p.400
. . . . . . g.350543
AGGCTAGCTGATGAACATGTTCTCATCGGGTTGTATGTCAACATGCTCCGGAACAACCCC c.1260
R L A D E H V L I G L Y V N M L R N N P p.420
| 15 . . . . . . g.360061
TCATG | CATGCTTGAGAGTTCAAACCGGCTTGATGAAGAACACAGGCTAATTGCCAGGTAT c.1320
S C | M L E S S N R L D E E H R L I A R Y p.440
. . . | 16 . . . g.363568
GCGGCAAGGCTGGCAGCAGAGTCCTCTTCGTCT | CAGCCACCTCAGCAGAGAAGTGCTCCT c.1380
A A R L A A E S S S S | Q P P Q Q R S A P p.460
. . . . . . g.363628
GACATCTCTTTCACCATCGATGCGAATAAGCAGCAAAGGCAGCTGATTGCTGAGCTAGAA c.1440
D I S F T I D A N K Q Q R Q L I A E L E p.480
. | 17 . . . . . g.370044
AACAAGAACAG | AGAAATCTTACAGGAGATCCAGAGACTTCGGCTAGAGCATGAACAAGCT c.1500
N K N R | E I L Q E I Q R L R L E H E Q A p.500
. . . . . . g.370104
TCTCAGCCCACGCCAGAGAAGGCACAGCAAAACCCCACCCTGCTGGCAGAACTCCGGCTC c.1560
S Q P T P E K A Q Q N P T L L A E L R L p.520
| 18 . . . . . . g.375731
CTCAG | ACAGCGCAAAGATGAGCTGGAACAGAGAATGTCTGCTCTCCAGGAGAGCCGGAGA c.1620
L R | Q R K D E L E Q R M S A L Q E S R R p.540
. . . . | 19 . . g.386967
GAGCTAATGGTCCAGTTGGAGGGTCTCATGAAGCTACTAAAG | ACTCAGGGGGCAGGCTCT c.1680
E L M V Q L E G L M K L L K | T Q G A G S p.560
. . . . . . g.387027
CCCCGCTCCTCCCCCAGCCACACCATCAGCAGGCCAATTCCCATGCCCATCCGGTCAGCG c.1740
P R S S P S H T I S R P I P M P I R S A p.580
. . . . . . g.387087
TCAGCCTGCTCCACCCCGACGCACACGCCGCAGGACTCCCTCACAGGAGTAGGGGGAGAT c.1800
S A C S T P T H T P Q D S L T G V G G D p.600
. . | 20 . . . . g.389467
GTACAAGAGGCATTTGCACAAA | GTTCAAGAAGAAACTTAAGGAATGACTTGCTAGTGGCT c.1860
V Q E A F A Q S | S R R N L R N D L L V A p.620
. . . . . | 21 . g.391269
GCAGATTCCATCACTAACACTATGTCCTCTCTTGTGAAAGAGCTGAATTCTG | AGGTTGGG c.1920
A D S I T N T M S S L V K E L N S E | V G p.640
. . . . . . g.391329
AGTGAAACAGAGAGTAATGTGGATTCTGAATTTGCACGGACTCAGTTTGAGGATCTTGTT c.1980
S E T E S N V D S E F A R T Q F E D L V p.660
. . . . . . g.391389
CCCTCACCAACCTCTGAAAAGGCTTTTCTAGCGCAAATCCATGCCCGAAAACCTGGGTAC c.2040
P S P T S E K A F L A Q I H A R K P G Y p.680
. . . . | 22 . . g.393798
ATTCACAGTGGAGCTACCACAAGTACCATGCGTGGCGACAT | GGTTACGGAGGATGCAGAT c.2100
I H S G A T T S T M R G D M | V T E D A D p.700
. . . . . . g.393858
CCCTATGTGCAGCCTGAAGATGAAAACTATGAAAATGACTCTGTCCGGCAGCTGGAGAAT c.2160
P Y V Q P E D E N Y E N D S V R Q L E N p.720
. . . . . | 23 . g.396444
GAGCTCCAGATGGAGGAATACCTGAAACAGAAGCTGCAAGATGAAGCTTATCAG | GTCAGC c.2220
E L Q M E E Y L K Q K L Q D E A Y Q | V S p.740
. g.396456
TTGCAAGGTTGA | c.2233
L Q G X p.743
. . . | 24 . . . g.399505
atgcaatatccttttatcacactcctctcaa | gcaagctatagtcagacagatgatgaaag c.*60
. . . . . . g.399565
taacatgaaaactggtgatgatggagagccctgtggccacacagaggaggaagacagcag c.*120
. . . . . . g.399625
cctggcagcagcctcaccgaagagaggaaccaccacacccagcagctcctgacagacccc c.*180
. . . . . . g.399685
cacccctaaagatgtgtcctgatgactatagtgcagctaactttttgttctcagatttgt c.*240
. . . . . . g.399745
agtgcataggtgtgtgtttcaagaaggaaaaaaaaagacttctgttcaaagttaacttat c.*300
. . . . . . g.399805
cagctacatcctctgtaacgtggttcatccctggttaaaaagcaaacaaacacaggctga c.*360
. . . . . . g.399865
aaacccatgctgctgttatacacaatggcagtattaacaagcattttaaacctttgcaca c.*420
. . . . . . g.399925
tgatattgaacctgttcagtttacaatgacaatattaatactgtttatagctagaagttt c.*480
. . . . . . g.399985
gatttctgaattctttgagattttagcaaaacagtttattatacactgtacatttttttc c.*540
. . . . . . g.400045
acagcaattggaaaaaaacaaccacttgcaatcattcaataaccctgaagaatttggttc c.*600
. . . . . . g.400105
ctgagtgtacaaactcagagcccggaagccaagaagggtccttggcctgcacggtctgta c.*660
. . . . . . g.400165
gttgactccaagtctctgtgagcagtgacttgaaccaaacacaccaggaataatccattc c.*720
. . . . . . g.400225
tttggggcctctttccaactcgaggttgttttctttcaagatactctaatcagccataga c.*780
. . . . . . g.400285
atttagtgtaaatatttttttttccaaatagatatcatattcaaaaaaggcagcattcaa c.*840
. . . . . . g.400345
attatatagaatctagtttttaaaatcagcacagatcttcttaaaaactgtgaactatgt c.*900
. . . . . . g.400405
tttgaaatactcgttactaaagctgtttataaaccacaggtgccataagatccccaaacg c.*960
. . . . . . g.400465
gactaaagttatctctgctcttccatggtcttgttcctctcgttttggctttaggaagca c.*1020
. . . . . . g.400525
tgtctttaacagcaccgctcgttcacaagttcccccatcaagttgtttggaggccttcag c.*1080
. . . . . . g.400585
ctttaaatgtacaggcttaaagtgcgcttgcaaacgtttgctctcctttttttctgaatg c.*1140
. . . . . . g.400645
ttgattgccttagctggccacctggtgttctgcatgtagccttctgtggtcatgtgaaag c.*1200
. . . . . . g.400705
gagacaggctcttctaagttgagttgggatttttgcactcagtgaaaagctgaagtgcaa c.*1260
. . . . . . g.400765
aagagctatcaaagacaagaggataaaagactgggatagtcttttccaaggaccctcttt c.*1320
. . . . . . g.400825
agagggccctaaagacctcctttgggaattctggggaaaaagaaaaagtaatcttctact c.*1380
. . . . . . g.400885
tgcttcaagatttgatttttttaaaaaagcctgcgacctattcaatacattatgcttaaa c.*1440
. . . . . . g.400945
ttagcagtttctctggaattcctgtctctcctttaaaagaaaggagagaacattttagaa c.*1500
. . . . . . g.401005
caatagttctcaaagtgtgttccccggacaagcagcatctgcaacacttaggaaggtctt c.*1560
. . . . . . g.401065
cgaaatactaatttgtaagccccacctcaggcctactgaatcagaagctctgggggttgg c.*1620
. . . . . . g.401125
gtccagaagtctgttttagtcaaccctctaggtgattctgatgctcgctaaaggttgaga c.*1680
. . . . . . g.401185
actactgctttagaatgaagtcgtataataaagtctctgaaaaggccttattcagaataa c.*1740
. . . . . . g.401245
gcaagaaaggttctgtgattcacttttgcttctggggctggcaaaaaccttctctgaacc c.*1800
. . . . . . g.401305
cacacaccaagttcgtagttggtaggtgcccagccaagtcctgacatcttcatgccccct c.*1860
. . . . . . g.401365
ctgcagagggcggctgtacgatgttcacatgtctgcgtttggtcagacatcatctccttg c.*1920
. . . . . . g.401425
gctgccctttgaaaccaaatcacttgccttggggataaagtgctcaattggcattagtga c.*1980
. . . . . . g.401485
gaagcccatcctatcccttgacatacttaatcatatatctctccagagaactcacctgac c.*2040
. . . . . . g.401545
aaatgtctctgagcacaggctgacaccaaagtggcacaactgcacagttctcagatttct c.*2100
. . . . . . g.401605
ttgcacagattgatttttattgcgggttttgttggggtgtcttaatgttcatctcttttc c.*2160
. . . . . . g.401665
cactgcccatcctctgtgaacccatacctctctagatggagcaggtggccactggtgcct c.*2220
. . . . . . g.401725
catactcagtattgaaaaccactacatcccagctacctataatgctgtcagctcaaaatc c.*2280
. . . . . . g.401785
atagccaggtagttcttgaactcagaacttaaatcctgcacgtggcactccaccactgac c.*2340
. . . . . . g.401845
tggaccgagctggcatatgttgtttctttgtgtttctacatcaaaatgttcgtctaagat c.*2400
. . . . . . g.401905
ttgaactgttctgctgataaccttccccgttgtcatagctatttcattgccaaccaactc c.*2460
. . . . . . g.401965
catcacatggttgttgatatcgtcatataaagccattgcaaggactctggaaactgccgc c.*2520
. . . . . . g.402025
caatgaccaatttctgactaaccagccaccttttctctctcttagctccacgtcagcact c.*2580
. . . . . . g.402085
gagaccagactcgagcacccctgtcctgtaagcgagacaaaatggcgtgtgttattttgg c.*2640
. . . . . . g.402145
ggttttgtgttttttggtgggtttctttccttggctctccagatttacttttggggcctg c.*2700
. . . . . . g.402205
ttctaagtgcaaacccagcaagtttcacttgtcctgtccattagatacaactacatcttg c.*2760
. . . . . . g.402265
cgggggttgtttctttcttgttccacaatgaattgcacatccatctccatcagagctgat c.*2820
. . . . . . g.402325
agcctgttaataagcactggtctaacacagccaaccctcctccacagcgccatattaatg c.*2880
. . . . . . g.402385
gaggaggggaggaaggtgaaatctactgcatgggattcaggaaacagttgtggttggtca c.*2940
. . . . . . g.402445
ggacggaagttggggtaagtttggttggtcagagggagttgtgctggagattgtgaaaaa c.*3000
. . . . . . g.402505
tgggttcttgaatgatctactataaggcagggaaggttcatttgtaagtagtaatgtgaa c.*3060
. . . . . . g.402565
ctgaattgcattaagagtgtgtggcctttgttgtgatatactatgtattttcttatatgc c.*3120
. . . . . . g.402625
atgagccaaactgttgcatcataatttagcactgatgtctgcttttattttgatcatctt c.*3180
. . . . . . g.402685
tgtccacccttattagttcttggctgttaaccgtagatagatcttgtaaatccagcaacc c.*3240
. . . . . . g.402745
tttggttgctgcattccccttggttcgattccacgcaaggagccacaagtgagaactcca c.*3300
. . . . . . g.402805
ctgtccttagaagaaagggcatttttacttttgaaccaaaaagagaaaaaaaaatcagaa c.*3360
. . . . . . g.402865
gtgttgcatcttgaggcgaattaactgtaagacatttttaattatgactactgcaatttg c.*3420
. . . . . . g.402925
acaccatttgaaataatcaattcagagacactaaagatttcacaatattcattggtattg c.*3480
. . . . . . g.402985
taaaaaaaaaatactattgtatggatttttgtattgctgttaagtattgttttgtgtgtg c.*3540
. . . . . . g.403045
tgtgtgtgtgtgtgtgttggaacctcctggggacatgttatattttgaagtgattaaact c.*3600
. . . . . . g.403105
atttaattgtgtgtctatattttggagtggaataatttcttcattaaaaaatgtttttaa c.*3660
. . . . . . g.403165
aaacactatatcttgggtggtttattcctttgtttcagtgaatctttcctaaagcaacgt c.*3720
. . . . . . g.403225
ggagtcagtctgttgaaagaaggaaggcaggtacttgcagtttaaagcaggacccattga c.*3780
. . . . . . g.403285
tggaatattgagccaccgaggcaaaatagctcaccttctcttgccttgggggatgcatgg c.*3840
. . . . . . g.403345
tttttaccattctactgttttattagcatctgtgagcatctaatagaaatactattctgc c.*3900
. . . . . . g.403405
tatttatggaaatccttattataattgatatggaagtgagtttgaaattctaacagctaa c.*3960
. . . . . . g.403465
catatttcatgtttgtatcacacactgttcttaacactttatgtgacttcactcaattct c.*4020
. . . . . . g.403525
ttgaatcctctgcatctagccatgtattctgcaaatattaagtgctcaatggtttttttg c.*4080
. . . g.403555
ttgaattactgaataaatgaattagtggtg c.*4110
(downstream sequence)
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