(used for variant description)
(last modified July 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_021080.3 in the DAB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046914.1, covering DAB1 transcript NM_021080.3.
(upstream sequence)
. g.5014
ataaggtatgaaag c.-661
. . . . . . g.5074
atgtggcctgcagagagccggcactatctctactgctgctgctgctgctactgctgctgt c.-601
. . . . . . g.5134
tgctaccgctgcctctgctgccaccgccactactgctgccagcggagccgctaggagtga c.-541
. . . . . . g.5194
gcatcccctctccgggatacccagctccgcggcgtctcccgcgcgccctggccccacacg c.-481
. . . . . . g.5254
gacctgccagccccagggaacaaaagcggagcccgctcgccctctactgcagccggagga c.-421
. . . . . | 02 . g.371391
tgagtcgagagggctgagcggagagtgtggtcctcggcggctggag | ctatttccttggct c.-361
. . . . . . g.371451
tctctccatgacgattcctgactcgtggccccggcaatcttgggaagacatcatccagct c.-301
. . . . . . g.371511
tcttcagtccagaccctgggcaccccccttttgccaggatcgtccccacccagcctggac c.-241
. . . | 03 . . g.605904
acattgactgaactgttttctaggacactg | cactcagcaagacatggtggtgagccctga c.-181
. . . . . | 04 . g.964389
ctctcagtcttcatgattgaagaactcttttgtacaacacaaag | cactcaaaaagagtga c.-121
. . . . . . g.964449
atgaaatgtgcagctcagagtgtcatttctgaagggaggagtctttctcttggagaagag c.-61
. . . . . . g.964509
tcctcaatgagcctggccgaggcccgggatctgtgtgaagtggactaaggattaagtagg c.-1
. . . . . . g.964569
ATGTCAACTGAGACAGAACTTCAAGTAGCTGTGAAAACCAGCGCCAAGAAAGACTCCAGA c.60
M S T E T E L Q V A V K T S A K K D S R p.20
| 05. . . . . . g.1110163
AAGAAAG | GTCAGGATCGCAGTGAAGCCACTTTGATAAAGAGGTTTAAAGGTGAAGGGGTC c.120
K K G | Q D R S E A T L I K R F K G E G V p.40
. . . . . . g.1110223
CGGTACAAAGCCAAATTGATCGGGATTGATGAAGTTTCCGCAGCTCGGGGAGACAAGTTA c.180
R Y K A K L I G I D E V S A A R G D K L p.60
. . | 06. . . . g.1118931
TGTCAAGATTCCATGATGAAACTCAAG | GGCGTTGTTGCTGGCGCTCGTTCCAAAGGAGAA c.240
C Q D S M M K L K | G V V A G A R S K G E p.80
. . . . . . g.1118991
CACAAACAGAAAATCTTTTTAACCATCTCCTTTGGAGGAATCAAAATCTTTGATGAGAAG c.300
H K Q K I F L T I S F G G I K I F D E K p.100
| 07 . . . . . . g.1183179
ACAGGG | GCCCTTCAGCATCATCATGCTGTTCATGAAATATCCTACATTGCAAAGGACATT c.360
T G | A L Q H H H A V H E I S Y I A K D I p.120
. . . . . . g.1183239
ACAGATCACCGGGCCTTTGGATATGTTTGTGGGAAGGAAGGGAATCACAGATTTGTGGCC c.420
T D H R A F G Y V C G K E G N H R F V A p.140
. | 08 . . . . g.1183940
ATAAAAACAGCCCAGGCG | GCTGAACCTGTTATTCTGGACTTGAGAGATCTCTTTCAACTC c.480
I K T A Q A | A E P V I L D L R D L F Q L p.160
. . . . . . g.1184000
ATTTATGAATTGAAGCAAAGAGAAGAATTAGAAAAAAAGGCACAAAAGGATAAGCAGTGT c.540
I Y E L K Q R E E L E K K A Q K D K Q C p.180
. | 09 . . . | 10. g.1186117
GAACAAGCTGTGTACCAG | ACAATATTGGAAGAGGATGTTGAAGATCCTGTGTACCAG | TAC c.600
E Q A V Y Q | T I L E E D V E D P V Y Q | Y p.200
. . . . . . g.1186177
ATTGTGTTTGAGGCTGGACACGAGCCAATCCGTGATCCCGAAACGGAAGAAAACATTTAT c.660
I V F E A G H E P I R D P E T E E N I Y p.220
| 11 . . . . . . g.1192653
CAG | GTTCCCACCAGCCAAAAGAAGGAAGGTGTTTATGATGTGCCAAAAAGTCAACCTGTA c.720
Q | V P T S Q K K E G V Y D V P K S Q P V p.240
| 12 . . . . . . g.1229553
AGT | GCTGTGACCCAATTAGAACTTTTTGGGGACATGTCCACACCCCCTGATATAACCTCT c.780
S | A V T Q L E L F G D M S T P P D I T S p.260
| 13 . . . . . . g.1231954
CCCCCC | ACTCCTGCAACTCCAGGTGATGCCTTTATCCCATCTTCATCTCAGACCCTTCCA c.840
P P | T P A T P G D A F I P S S S Q T L P p.280
. . . . . | 14 . g.1240113
GCGAGTGCAGATGTGTTTAGTTCTGTACCTTTCGGCACTGCTGCTGTACCCTCAG | GTTAC c.900
A S A D V F S S V P F G T A A V P S G | Y p.300
. . . . . . g.1240173
GTTGCAATGGGCGCTGTCCTCCCGTCCTTCTGGGGTCAGCAGCCCCTCGTCCAACAGCAG c.960
V A M G A V L P S F W G Q Q P L V Q Q Q p.320
. . . . . . g.1240233
ATGGTCATGGGTGCCCAGCCACCAGTCGCTCAGGTGATGCCGGGGGCTCAGCCCATCGCA c.1020
M V M G A Q P P V A Q V M P G A Q P I A p.340
. . . . . . g.1240293
TGGGGCCAGCCGGGTCTCTTTCCTGCCACTCAGCAGCCCTGGCCAACTGTGGCCGGGCAG c.1080
W G Q P G L F P A T Q Q P W P T V A G Q p.360
. . . . . . g.1240353
TTTCCGCCAGCCGCCTTCATGCCCACACAAACTGTTATGCCTTTGCCAGCTGCCATGTTC c.1140
F P P A A F M P T Q T V M P L P A A M F p.380
. . . . . . g.1240413
CAAGGTCCCCTCACCCCCCTTGCCACCGTCCCAGGCACGAGTGACTCCACCAGGTCAAGT c.1200
Q G P L T P L A T V P G T S D S T R S S p.400
. . . . . . g.1240473
CCACAGACCGACAAGCCCAGGCAGAAAATGGGCAAAGAAACGTTTAAGGATTTCCAGATG c.1260
P Q T D K P R Q K M G K E T F K D F Q M p.420
. . . . . . g.1240533
GCCCAGCCTCCGCCCGTGCCCTCCCGCAAACCCGACCAGCCCTCCCTCACCTGTACCTCA c.1320
A Q P P P V P S R K P D Q P S L T C T S p.440
. . . . . . g.1240593
GAGGCCTTCTCCAGTTACTTCAACAAAGTCGGGGTGGCACAGGATACAGACGACTGTGAT c.1380
E A F S S Y F N K V G V A Q D T D D C D p.460
. . . . . . g.1240653
GACTTTGACATCTCCCAGTTGAATTTGACCCCTGTGACTTCTACCACACCATCGACCAAC c.1440
D F D I S Q L N L T P V T S T T P S T N p.480
| 15 . . . . . . g.1244323
TCAC | CTCCAACCCCAGCCCCTAGACAGAGCTCTCCATCCAAATCATCTGCATCCCATGCC c.1500
S P | P T P A P R Q S S P S K S S A S H A p.500
. . . . . . g.1244383
AGTGATCCTACCACAGATGACATCTTTGAAGAGGGCTTTGAAAGTCCCAGCAAAAGCGAA c.1560
S D P T T D D I F E E G F E S P S K S E p.520
. | 16 . . . . . g.1244797
GAGCAAGAAGCT | CCTGATGGATCACAGGCCTCATCCAACAGTGATCCATTTGGTGAGCCC c.1620
E Q E A | P D G S Q A S S N S D P F G E P p.540
. . . . g.1244845
AGTGGGGAGCCCAGTGGTGATAATATAAGTCCACAGGCCGGTAGCTAG c.1668
S G E P S G D N I S P Q A G S X p.555
. | 17 . . . . . g.1257456
atagcgcaggtctgg | gagccagagcctctgtacgcgcagatcaacagacctaagaaatag c.*60
. . . . . . g.1257516
catcgatgcgagctcgtggtgggtgctcaagactggcatggacatcagcatcacgacagg c.*120
. . . . . . g.1257576
ctctcttgtattctttcacctcttcccacaagaaattcatgattgcccaatggaactcgc c.*180
. . . . . g.1257634
tcagaagagggaactaagcatttttggcaaccaatggcagatatctatggcagcacac c.*238
(downstream sequence)
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