(used for variant description)
(last modified May 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_145663.2 in the DBF4B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering DBF4B transcript NM_145663.2.
(upstream sequence)
. . . g.5033
gtagggcggatctcgcagctacggcgttctttt c.-181
. . . . . . g.5093
aggggtggagccggcaggaaatttaaactgaagccgcggccgaaaacgccaagagattga c.-121
. . . . . . g.5153
tgctgtagctgccctgagataaccaggactgtggaatcgggaagagctcatggagctcgc c.-61
. . . . . . g.5213
gaatgtaatacggaggcctctgaggaaggagtacggaggccgagaaggagccggcatttg c.-1
. | 02 . . . . g.5737
ATGAGCGAACCGGGAAAGG | GAGACGATTGCCTCGAGCTGGAGAGTTCCATGGCTGAGAGT c.60
M S E P G K G | D D C L E L E S S M A E S p.20
. . | 03 . . . . g.19310
AGGCTCCGGGCCCCGGACCTAG | GAGTTTCCAGGTGTCTAGGAAAATGCCAGAAGAACTCA c.120
R L R A P D L G | V S R C L G K C Q K N S p.40
. . . . . . g.19370
CCAGGTGCCAGGAAGCATCCCTTTTCCGGAAAGTCCTTTTACTTGGATCTGCCTGCTGGC c.180
P G A R K H P F S G K S F Y L D L P A G p.60
. . . . | 04 . . g.26312
AAGAATCTCCAGTTTTTGACGGGGGCCATTCAGCAACTGGGTGGG | GTAATTGAGGGTTTT c.240
K N L Q F L T G A I Q Q L G G | V I E G F p.80
. . . . . . g.26372
CTGAGCAAAGAAGTAAGTTACATCGTGTCCAGCCGCAGAGAAGTAAAGGCAGAGAGCAGT c.300
L S K E V S Y I V S S R R E V K A E S S p.100
. . . . . . g.26432
GGGAAAAGCCATAGAGGCTGCCCTAGCCCTAGCCCCAGTGAGGTCAGAGTGGAAACATCG c.360
G K S H R G C P S P S P S E V R V E T S p.120
. . . . . | 05. g.27360
GCCATGGTTGATCCAAAAGGCAGCCACCCCAGGCCTTCACGGAAACCCGTTGACTCG | GTG c.420
A M V D P K G S H P R P S R K P V D S | V p.140
. . . . | 06 . g.28582
CCTCTAAGCAGAGGGAAGGAGCTGCTGCAGAAGGCTATCAGAAACCAG | GGGAGCATCAGT c.480
P L S R G K E L L Q K A I R N Q | G S I S p.160
. . . . . . g.28642
GGAGGAGGCAGTGGGGGCAGCAGCAGCCTCCTGACCAATGCCCGCTCTTGGGGAGTGAGG c.540
G G G S G G S S S L L T N A R S W G V R p.180
. | 07 . . . . . g.30526
ATTCTGCACGTGGATG | AAATGATGATGCACGTGCAACAGCTGTCTCTTGCGTCTTTATGT c.600
I L H V D E | M M M H V Q Q L S L A S L C p.200
. . . | 08 . . . g.33252
GTGAAAAAACAACAGCCAAAGAAGCCAGAG | GGAACATGTCCAGCAGCAGAGTCAAGAACA c.660
V K K Q Q P K K P E | G T C P A A E S R T p.220
| 09. . . . . | 10 . g.37735
CGGAAAG | TGGCCAGACTGAAGGCCCCGTTCCTCAAAATCGAAGATGAAAGCAG | GAAGTTT c.720
R K V | A R L K A P F L K I E D E S R | K F p.240
. . . . . . g.37795
CGTCCTTTCCATCATCAGTTTAAATCCTTTCCTGAAATTTCTTTTCTTGGACCCAAAGAT c.780
R P F H H Q F K S F P E I S F L G P K D p.260
. . . . . | 11 . g.43485
GCAAGTCCCTTTGAGGCCCCGACGACCCTGGGCAGCATGCACCATACCAG | AGAATCCAAG c.840
A S P F E A P T T L G S M H H T R | E S K p.280
. . . . . . g.43545
GATGGAGAGCCAAGCCCACGATCAGCTGCCCACACCATGCCCAGGAGGAAGAAAGGCTAC c.900
D G E P S P R S A A H T M P R R K K G Y p.300
. . . | 12 . . g.43804
TGCGAGTGCTGTCAGGAGGCCTTCGAGGAGCTCCATGTG | CATCTTCAGAGTGCCCAGCAC c.960
C E C C Q E A F E E L H V | H L Q S A Q H p.320
. . . . . . g.43864
CGGAGCTTTGCCCTGGAAGCCCATCTATATGCAGAAGTGGACAGGATCATTGCTCAGCTC c.1020
R S F A L E A H L Y A E V D R I I A Q L p.340
. . . . | 13 . . g.44749
AGCCACAGCTTTGCAGACATCCCTTTCCAGGCTGGCCTCCCCAG | GTGGTCAGGTTCCCCA c.1080
S H S F A D I P F Q A G L P R | W S G S P p.360
. . . . . . g.44809
GCTTCTGATTGTGACCCTCTCTGTCCTGAGACTCTGCACCCCCATCAGCCCTCCCATCCC c.1140
A S D C D P L C P E T L H P H Q P S H P p.380
. . . . | 14 . g.46998
AGGGCAGCATCTCCCAGGATAAGGAAAGAAGACAGCTGCCAGGCATCAG | TGACCCAAGGC c.1200
R A A S P R I R K E D S C Q A S V | T Q G p.400
. . . . . . g.47058
AGGGCTGCGGGCCAGCAGCGATGGACAGAATCACTAGATGGTGTGATGGGACCTCCTGCA c.1260
R A A G Q Q R W T E S L D G V M G P P A p.420
. . . . . . g.47118
AGTCACACATGTGTGAGTGCCACAACCCTCCTGCCGGCCTTGCCCAAGGGCTCCAGGGAG c.1320
S H T C V S A T T L L P A L P K G S R E p.440
. . . . . . g.47178
CAGGGCTGCCTCTGTCCCTGCCCAGCCTCCTTTACCCAGTCTCATCTGGTCACTTCCTTG c.1380
Q G C L C P C P A S F T Q S H L V T S L p.460
. . . . . . g.47238
GCTCTGCTGCCTGGGGAGTGGTCGCCTGCAGAGGACATGCCCCTCCATCCCTCCCAAGAA c.1440
A L L P G E W S P A E D M P L H P S Q E p.480
. . . . . . g.47298
AACTCCTTTGCCCCGGCGGACATTCCTGTTAAGGGCCCACTCCTCTTCCCTGAAGCCAGA c.1500
N S F A P A D I P V K G P L L F P E A R p.500
. . . . . . g.47358
CCGTGGCTTATGTCTGCACGCTGCTGGGTTCGTCCCTTTCCTTTTGTGACATGGGGTTGC c.1560
P W L M S A R C W V R P F P F V T W G C p.520
. . . . . . g.47418
CTCATTCCCCATGACACCACCCCTCTGCATGAGGAAGTTTCCCCTTGCCCCTGTCTCAGA c.1620
L I P H D T T P L H E E V S P C P C L R p.540
. . . . . . g.47478
CTTGGATACCTTTACCTGCTGCTCACACAAAGCCTGTGGTGCCGGGTTCGGGTGCCCTCA c.1680
L G Y L Y L L L T Q S L W C R V R V P S p.560
. . . . . . g.47538
TTGTCAACTGCAGGACCCATTCCCCGAACCTCACATCCGTGTACCCTTGCCTTCCCCTCC c.1740
L S T A G P I P R T S H P C T L A F P S p.580
. . . . . . g.47598
TATCTCAATGATCATGACCTTGGACATCTCTGCCAGGCCAAACCCCAAGGCTGGAACACT c.1800
Y L N D H D L G H L C Q A K P Q G W N T p.600
. . . . g.47646
CCTCAGCCATTTCTCCATTGCGGCTTCCTGGCTGTAGACTCAGGTTAG c.1848
P Q P F L H C G F L A V D S G X p.615
. . . . . . g.47706
aggtgaacccagaacacctgagacttgacccaggatggatgggtgctgcttgatgtgaat c.*60
. . . . . . g.47766
gaggtcccgcagtggctccttggcgtgagcactgctcagactcctttccactccagcccc c.*120
. . . . . . g.47826
ctttccacatcgcaccagatgacttttacccagacccagtgggcattgccttatcttgca c.*180
. . . . . . g.47886
gtcagtcccttttcaacatgttgccgtttctttctgaagaggtgtcctccctccacaagt c.*240
. . . . . . g.47946
cacactgtctgtccctggccctccagcccacctcgccaaccactcttgttggtttccttc c.*300
. . . . . . g.48006
tcagacttgccacctttcccctctgccccaaaatgccatgctcctctcctggaaaacact c.*360
. . . . . . g.48066
tgagttgattcagtaaatcgacttcaaatacttgaaggctcccaccttctgttctctggc c.*420
. . . . . . g.48126
tccttcctgcggtctatacctaccgcctcctcttcacctccttcccttccacacttcctt c.*480
. . . . . . g.48186
cctgggtagctctgcctgaagcattccactaagatcatctattccaaggtcatggacagg c.*540
. . . . . . g.48246
ctactggtgaccaaagttggttccttttctcctttctttcctccttgaagcctggctccc c.*600
. . . . . . g.48306
ttggtcgcagcagcccctcagtggcctggttctcctgtccccctgcccttcctcaccatt c.*660
. . . . . . g.48366
gcccattccctcgttcgttcattcagcacaggccttgccgtctgccctgagtcagctccg c.*720
. . . . . . g.48426
agacacctgaagagccctccagccctaactactttactcagactaggtccccaggccttt c.*780
. . . . . . g.48486
gttcttgcctcttctcgctgagcctttcacttctcggcagatgtgaccgattggtagctc c.*840
. . . . . . g.48546
caccccaactcccttctgctgggtggaatgcaggagctagctgcctccaactcactgtga c.*900
. . . . . . g.48606
cctcagaaaaatgcctttattactcgggcctcagtttcctcgtctttaagtaaggggctt c.*960
. . . . . g.48662
ggatgagatgatttcaggaccctttccaataataaaatactgtgactgccagcaaa c.*1016
(downstream sequence)
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