(used for mutation description)
(last modified February 22, 2011)
This file was created to facilitate the description of sequence variants in the DAG1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_013230.2, covering DAG1 transcript variant-1 (NM_001165928.2). A range of DAG1 transcripts have been described, containing variable numbers of exons in the 5'UTR, e.g. alternatively spliced exons 02 to 04 and exons 02b and 02c. Some transcripts use an upstream alternative promoter/exon01b (transcript variant-12, NM_001177643.1).
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . g.5059
aggcagaagccggcggcgcgcggacagccagtcggcgccgcgcggagctggccgctgga c.-721
. . . . . . g.5119
ttggctgcaacactcgcgtgtcaggcggttgctaggctccggccgcgcgccccgcccttg c.-661
. . . / . . . g.5179
cgctcagcgccctctcaccgcccg / gtacgtgctcgcgcgaaggctgcggcgcggcgctcg c.-601
^ alternative splice site
. . . . . . g.5239
cgcctcttaggcttggcggtggcggcggcggcagcttcgcgccgaatccccggggagcgg c.-541
. . . . . . g.5299
cggtggcggcgtcctggggccaggaggagcgaacacctgccgcggtcctcccgccggcgc c.-481
. | 02 . . . . . g.22179
tgg | gcacacgactgtctatcccagatggctgcactggcctaggacagacggttcttcccc c.-421
^ alternative splice site in intron 01
. . . . . . g.22239
cagtacgtcaagaccctggagggtgcaagctacagaacagctgggctcctgcattcctcc c.-361
. . . . . | 03 . g.23581
cagaccctgtcttcagtaggacaacaggcaacaaacttaaatttg | ggtcaagcgattccc c.-301
. . . . | 04 . . g.27718
ctgcctcagcttcctgagtagctgggattacag | atagccctgggatctcctgaatttcca c.-241
. . . . . . g.27778
ggttgggctactcaggcatggattgactcctacagttcaggcggatggagatcccaccaa c.-181
. . . . . . g.27838
cccacagcttaattcttcagatgctttatcttcatttctcatgtatcttcagttggcttc c.-121
. | 05 . . . . . g.45343
taat | gctctgtgtgctccgggatggagcaggtgtgcagagggtgagaacccagctctggg c.-61
. . . . . . g.45403
accaagtcacttgcttccttacttagcaagactatcgacttgagcaaacttggacctggg c.-1
. . . . . . g.45463
ATGAGGATGTCTGTGGGCCTCTCGCTGCTGCTGCCCCTCTGGGGGAGGACCTTTCTCCTC c.60
M R M S V G L S L L L P L W G R T F L L p.20
. . . . . . g.45523
CTGCTCTCTGTGGTTATGGCTCAGTCCCACTGGCCCAGTGAACCCTCAGAGGCTGTCAGG c.120
L L S V V M A Q S H W P S E P S E A V R p.40
. . . . . . g.45583
GACTGGGAAAACCAGCTTGAGGCATCCATGCACTCAGTGCTCTCAGACCTCCACGAGGCT c.180
D W E N Q L E A S M H S V L S D L H E A p.60
. . . . . . g.45643
GTTCCCACAGTGGTTGGCATTCCTGATGGCACGGCTGTCGTCGGGCGCTCATTTCGAGTG c.240
V P T V V G I P D G T A V V G R S F R V p.80
. . . . | 06 . . g.65680
ACCATTCCAACAGATTTGATTGCCTCCAGTGGAGATATCATCAAG | GTATCAGCGGCAGGG c.300
T I P T D L I A S S G D I I K | V S A A G p.100
. . . . . . g.65740
AAGGAGGCTTTGCCATCTTGGCTGCACTGGGACTCACAGAGCCACACCCTGGAGGGCCTC c.360
K E A L P S W L H W D S Q S H T L E G L p.120
. . . . . . g.65800
CCCCTTGACACTGATAAGGGTGTGCATTACATTTCAGTGAGCGCTACACGGCTGGGGGCC c.420
P L D T D K G V H Y I S V S A T R L G A p.140
. . . . . . g.65860
AACGGGAGCCACATCCCCCAGACCTCCAGTGTGTTCTCCATCGAGGTCTACCCTGAAGAC c.480
N G S H I P Q T S S V F S I E V Y P E D p.160
. . . . . . g.65920
CACAGTGAGCTGCAGTCGGTGAGGACAGCCTCCCCAGACCCTGGTGAGGTGGTATCATCT c.540
H S E L Q S V R T A S P D P G E V V S S p.180
. . . . . . g.65980
GCCTGTGCTGCGGATGAACCTGTGACTGTTTTGACGGTGATTTTGGATGCCGACCTCACC c.600
A C A A D E P V T V L T V I L D A D L T p.200
. . . . . . g.66040
AAGATGACCCCAAAGCAAAGGATTGACCTCCTGCACAGGATGCGGAGCTTCTCAGAAGTA c.660
K M T P K Q R I D L L H R M R S F S E V p.220
. . . . . . g.66100
GAGCTTCACAACATGAAATTAGTGCCGGTGGTGAATAACAGACTATTTGACATGTCGGCC c.720
E L H N M K L V P V V N N R L F D M S A p.240
. . . . . . g.66160
TTCATGGCTGGCCCGGGAAATGCAAAAAAGGTGGTGGAGAATGGGGCCCTTCTCTCCTGG c.780
F M A G P G N A K K V V E N G A L L S W p.260
. . . . . . g.66220
AAGCTGGGCTGCTCCCTGAACCAGAACAGTGTGCCTGACATTCATGGTGTAGAGGCCCCT c.840
K L G C S L N Q N S V P D I H G V E A P p.280
. . . . . . g.66280
GCCAGGGAGGGCGCAATGTCTGCTCAGCTTGGCTACCCTGTGGTGGGTTGGCACATCGCC c.900
A R E G A M S A Q L G Y P V V G W H I A p.300
. . . . . . g.66340
AATAAGAAGCCCCCTCTTCCCAAACGCGTCCGGAGGCAGATCCATGCTACACCCACACCT c.960
N K K P P L P K R V R R Q I H A T P T P p.320
. . . . . . g.66400
GTCACTGCCATTGGGCCCCCAACCACGGCTATCCAGGAGCCCCCATCCAGGATCGTGCCA c.1020
V T A I G P P T T A I Q E P P S R I V P p.340
. . . . . . g.66460
ACCCCCACATCTCCAGCCATTGCTCCTCCAACAGAGACCATGGCTCCTCCAGTCAGGGAT c.1080
T P T S P A I A P P T E T M A P P V R D p.360
. . . . . . g.66520
CCTGTTCCTGGGAAACCCACGGTCACCATCCGGACTCGAGGCGCCATTATTCAAACCCCA c.1140
P V P G K P T V T I R T R G A I I Q T P p.380
. . . . . . g.66580
ACCCTAGGCCCCATCCAGCCTACTCGGGTGTCAGAAGCTGGCACCACAGTTCCTGGCCAG c.1200
T L G P I Q P T R V S E A G T T V P G Q p.400
. . . . . . g.66640
ATTCGCCCAACGATGACCATTCCTGGCTATGTGGAGCCTACTGCAGTTGCTACCCCTCCC c.1260
I R P T M T I P G Y V E P T A V A T P P p.420
. . . . . . g.66700
ACAACCACCACCAAGAAGCCACGAGTATCCACACCAAAACCAGCAACGCCTTCAACTGAC c.1320
T T T T K K P R V S T P K P A T P S T D p.440
. . . . . . g.66760
TCCACCACCACCACGACTCGCAGGCCAACCAAGAAACCACGGACACCCCGGCCAGTGCCC c.1380
S T T T T T R R P T K K P R T P R P V P p.460
. . . . . . g.66820
CGGGTCACCACCAAAGTTTCCATCACCAGATTGGAAACTGCCTCACCGCCTACTCGTATT c.1440
R V T T K V S I T R L E T A S P P T R I p.480
. . . . . . g.66880
CGCACCACCACCAGTGGAGTGCCCCGTGGCGGAGAACCCAACCAGCGCCCAGAGCTCAAG c.1500
R T T T S G V P R G G E P N Q R P E L K p.500
. . . . . . g.66940
AACCATATTGACAGGGTAGATGCCTGGGTTGGCACCTACTTTGAGGTGAAGATCCCGTCA c.1560
N H I D R V D A W V G T Y F E V K I P S p.520
. . . . . . g.67000
GACACTTTCTATGACCATGAGGACACCACCACTGACAAGCTGAAGCTGACCCTGAAACTG c.1620
D T F Y D H E D T T T D K L K L T L K L p.540
. . . . . . g.67060
CGGGAGCAGCAGCTGGTGGGCGAGAAGTCCTGGGTACAGTTCAACAGCAACAGCCAGCTC c.1680
R E Q Q L V G E K S W V Q F N S N S Q L p.560
. . . . . . g.67120
ATGTATGGCCTTCCCGACAGCAGCCACGTGGGCAAACACGAGTATTTCATGCATGCCACA c.1740
M Y G L P D S S H V G K H E Y F M H A T p.580
. . . . . . g.67180
GACAAGGGGGGCCTGTCGGCTGTGGATGCCTTCGAGATCCACGTCCACAGGCGCCCCCAA c.1800
D K G G L S A V D A F E I H V H R R P Q p.600
. . . . . . g.67240
GGGGATAGGGCTCCTGCAAGGTTCAAGGCCAAGTTTGTGGGTGACCCGGCACTGGTGTTG c.1860
G D R A P A R F K A K F V G D P A L V L p.620
. . . . . . g.67300
AATGACATCCACAAGAAGATTGCCTTGGTAAAGAAACTGGCCTTCGCCTTTGGAGACCGA c.1920
N D I H K K I A L V K K L A F A F G D R p.640
. . . . . . g.67360
AACTGTAGCACCATCACCCTGCAGAATATCACCCGGGGCTCCATCGTGGTGGAATGGACC c.1980
N C S T I T L Q N I T R G S I V V E W T p.660
. . . . . . g.67420
AACAACACACTGCCCTTGGAGCCCTGCCCCAAGGAGCAGATCGCTGGGCTGAGCCGCCGG c.2040
N N T L P L E P C P K E Q I A G L S R R p.680
. . . . . . g.67480
ATCGCTGAGGATGATGGAAAACCTCGGCCTGCCTTCTCCAACGCCCTAGAGCCTGACTTT c.2100
I A E D D G K P R P A F S N A L E P D F p.700
. . . . . . g.67540
AAGGCCACAAGCATCACTGTGACGGGCTCTGGCAGTTGTCGGCACCTACAGTTTATCCCT c.2160
K A T S I T V T G S G S C R H L Q F I P p.720
. . . . . . g.67600
GTGGTACCACCCAGGAGAGTGCCCTCAGAGGCGCCGCCCACAGAAGTGCCTGACAGGGAC c.2220
V V P P R R V P S E A P P T E V P D R D p.740
. . . . . . g.67660
CCTGAGAAGAGCAGTGAGGATGATGTCTACCTGCACACAGTCATTCCGGCCGTGGTGGTC c.2280
P E K S S E D D V Y L H T V I P A V V V p.760
. . . . . . g.67720
GCAGCCATCCTGCTCATTGCTGGCATCATTGCCATGATCTGCTACCGCAAGAAGCGGAAG c.2340
A A I L L I A G I I A M I C Y R K K R K p.780
. . . . . . g.67780
GGCAAGCTTACCCTTGAGGACCAGGCCACCTTCATCAAGAAGGGGGTGCCTATCATCTTT c.2400
G K L T L E D Q A T F I K K G V P I I F p.800
. . . . . . g.67840
GCAGACGAACTGGACGACTCCAAGCCCCCACCCTCCTCCAGCATGCCACTCATTCTGCAG c.2460
A D E L D D S K P P P S S S M P L I L Q p.820
. . . . . . g.67900
GAGGAGAAGGCTCCCCTACCCCCTCCTGAGTACCCCAACCAGAGTGTGCCCGAGACCACT c.2520
E E K A P L P P P E Y P N Q S V P E T T p.840
. . . . . . g.67960
CCTCTGAACCAGGACACCATGGGAGAGTACACGCCCCTGCGGGATGAGGATCCCAATGCG c.2580
P L N Q D T M G E Y T P L R D E D P N A p.860
. . . . . . g.68020
CCTCCCTACCAGCCCCCACCGCCCTTCACAGCACCCATGGAGGGCAAGGGCTCCCGTCCC c.2640
P P Y Q P P P P F T A P M E G K G S R P p.880
. . . . g.68068
AAGAACATGACCCCATACCGGTCACCTCCTCCCTATGTCCCACCTTAA c.2688
K N M T P Y R S P P P Y V P P X p.895
. . . . . . g.68128
cccgcaagcgcctgggtggaggcagggtagggcaggggcctggagacgacatggtgttgt c.*60
. . . . . . g.68188
ctgtggagaccggtggcctgcagaccattgcccaccgggagccgacacctgacctagcac c.*120
. . . . . . g.68248
acactgacacaggggcctggacaagcccgccctctctggtcctcccaaaccccaaagcag c.*180
. . . . . . g.68308
ctggagagactttggggacttttttatttttattttttgcctaacagcttttggtttgtt c.*240
. . . . . . g.68368
catagagaattcttcgcttcatttttgatggctggctctgaaagcaccatgtggagtgga c.*300
. . . . . . g.68428
ggtggagggagcgaggaaccatgaatgaactcgcaggcagtgccgggcggccccctggct c.*360
. . . . . . g.68488
ctctgcgttttgcctttaacactaactgtactgttttttctattcacgtgtgtctagctg c.*420
. . . . . . g.68548
caggatgtaacatggaaaacagtaactaaagattaaattcaaaggactttcagaagttaa c.*480
. . . . . . g.68608
ggttaagtttttacgtttaatctgctgtttacctaaacttgtatgtataatttttgggtg c.*540
. . . . . . g.68668
ggtatggggaattgctttgctaaaaataagctcccagggtgtttcaaacttagagaagac c.*600
. . . . . . g.68728
caagggacagtattttttatcaaaggaatactattttttcacactacgtcaacttggttg c.*660
. . . . . . g.68788
ctctgataccccagagcctgattgggggcctcccggccctggctcacgccaagtccctgg c.*720
. . . . . . g.68848
tgctgggtttgctctcccgctgttgccaggggctggaagctggaggggtctcttgggcca c.*780
. . . . . . g.68908
tggacatccccacttccagcccatgtacactagtggcccacgaccaaggggtcttcattt c.*840
. . . . . . g.68968
ccatgaaaaagggactccaagaggcagtggtggctgtggcccccaactttggtgctccag c.*900
. . . . . . g.69028
ggtgggccagctgcttgtgggggcacctgggaggtcaaaggtctccaccacatcaaccta c.*960
. . . . . . g.69088
ttttgttttaccctttttctgtgcattgtttttttttttcctcctaaaaggaatatcacg c.*1020
. . . . . . g.69148
gttttttgaaacactcagtgggggacattttggtgaagatgcaatatttttatgtcatgt c.*1080
. . . . . . g.69208
gatgctctttcctcacttgaccttggccgctttgtcctaacagtccacagtcctgccccg c.*1140
. . . . . . g.69268
acccaccccatcccttttctctggcactccagtcccaggccttgggcctgaactactgga c.*1200
. . . . . . g.69328
aaaggtctggcggctggggaggagtgccagcaatagttcataataaaaatctgttagctc c.*1260
. . . . . . g.69388
tcaaagctaattttttactaaagtttttatacagcctcaaattgttttattaaaaaaaag c.*1320
. . . . . . g.69448
atttaaaatggtgatgcttacagcagtttgtacgagctcttaagtgttgattccatggaa c.*1380
. . . . . . g.69508
ctgacggctttgcttgttttgattcttttccccctacttttcctaatggtttaaattctg c.*1440
. . . . . . g.69568
gaattacactggggttcttttgccttttttagcagaacatccgtccgtccatctgcatct c.*1500
. . . . . . g.69628
ctgtcccatgactcaggggcgcccactctgcttcgattctcctcctgtggaagaaaccat c.*1560
. . . . . . g.69688
tttgagcatgacttttcttgatgtctgaagcgttattttgggtactttttagggaggaat c.*1620
. . . . . . g.69748
gcctttcgcaataatgtatccattccctgattgagggtgggtgggtggacccaggctccc c.*1680
. . . . . . g.69808
tttgcacacagagcagctacttctaagccatatcgactgttttgcagaggatttgtgtgt c.*1740
. . . . . . g.69868
gctgcctcaggaggggagggctggtaggagggggggagaggtctctgtcctactgctctc c.*1800
. . . . . . g.69928
cagagggcatttccccttgcgccttctcccacagggcccagcccctctcccctgccccag c.*1860
. . . . . . g.69988
tccccagggggtactctggagtgagcagtgcccctgtgggggagcctgtaaatgcgggct c.*1920
. . . . . . g.70048
cagtggaccactggtgactgggctcatgcctccaagtcagagtttccctggtgccccaga c.*1980
. . . . . . g.70108
gacaggagcacaagtgggatctgacctggtgagattatttctgatgacctcatcaaaaaa c.*2040
. . . . . . g.70168
taaacaattcccaatgttccaggtgagggctttgaaaggccttccaaacagctccgtcgc c.*2100
. . . . . . g.70228
ccctagcaactccaccattgggcactgccatgcagagacgtggctggcccagaatggcct c.*2160
. . . . . . g.70288
gttgccatagcaactggaggcgatggggcagtgaacagaataacaacagcaacaatgcct c.*2220
. . . . . . g.70348
ttgcaggcagcctgctcccctgagcgctgggctggtgatggtcgttggactctgtgagat c.*2280
. . . . . . g.70408
ggagagccaatctcacattcaagtgttcaccaaccactgatgtgtttttatttccttcta c.*2340
. . . . . . g.70468
tatgattttaagatgtgttttctgcattctgtaaagaaacatatcaaactaaataaaagc c.*2400
. g.70484
agtgtctttattacaa c.*2416
(downstream sequence)
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