(used for variant description)
(last modified September 5, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_004725.3 in the BUB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033794.1, covering BUB3 transcript NM_004725.3.
(upstream sequence)
g.5002
ag c.-241
. . . . . . g.5062
cggtttccctttgagccggaacaggatgactgggttgaccgatgctgggcagctgagcgg c.-181
. . . . . . g.5122
accaatcggccccctagactgagacgttggcgtttgaaatcagccaatggcaggtctaca c.-121
. . . . . . g.5182
ctggagcttcctctccgcctccttcgcctagcctgcgagtgttctgagggaagcaaggag c.-61
. . . . . . g.5242
gcggcggcggccgcagcgagtggcgagtagtggaaacgttgcttctgaggggagcccaag c.-1
| 02 . . . . . . g.5734
| ATGACCGGTTCTAACGAGTTCAAGCTGAACCAGCCACCCGAGGATGGCATCTCCTCCGTG c.60
| M T G S N E F K L N Q P P E D G I S S V p.20
. . . . . . g.5794
AAGTTCAGCCCCAACACCTCCCAGTTCCTGCTTGTCTCCTCCTGGGACACGTCCGTGCGT c.120
K F S P N T S Q F L L V S S W D T S V R p.40
. . . . . . g.5854
CTCTACGATGTGCCGGCCAACTCCATGCGGCTCAAGTACCAGCACACCGGCGCCGTCCTG c.180
L Y D V P A N S M R L K Y Q H T G A V L p.60
. | 03 . . . . . g.6459
GACTGCGCCTTCTAC | GATCCAACGCATGCCTGGAGTGGAGGACTAGATCATCAATTGAAA c.240
D C A F Y | D P T H A W S G G L D H Q L K p.80
. . | 04 . . . . g.8520
ATGCATGATTTGAACACTGATCAAG | AAAATCTTGTTGGGACCCATGATGCCCCTATCAGA c.300
M H D L N T D Q E | N L V G T H D A P I R p.100
. . . . . . g.8580
TGTGTTGAATACTGTCCAGAAGTGAATGTGATGGTCACTGGAAGTTGGGATCAGACAGTT c.360
C V E Y C P E V N V M V T G S W D Q T V p.120
. . . . . | 05. g.11166
AAACTGTGGGATCCCAGAACTCCTTGTAATGCTGGGACCTTCTCTCAGCCTGAAAAG | GTA c.420
K L W D P R T P C N A G T F S Q P E K | V p.140
. . . . . . g.11226
TATACCCTCTCAGTGTCTGGAGACCGGCTGATTGTGGGAACAGCAGGCCGCAGAGTGTTG c.480
Y T L S V S G D R L I V G T A G R R V L p.160
. . . . . . g.11286
GTGTGGGACTTACGGAACATGGGTTACGTGCAGCAGCGCAGGGAGTCCAGCCTGAAATAC c.540
V W D L R N M G Y V Q Q R R E S S L K Y p.180
. . . | 06 . . . g.13016
CAGACTCGCTGCATACGAGCGTTTCCAAACAAGCAG | GGTTATGTATTAAGCTCTATTGAA c.600
Q T R C I R A F P N K Q | G Y V L S S I E p.200
. . . . . . g.13076
GGCCGAGTGGCAGTTGAGTATTTGGACCCAAGCCCTGAGGTACAGAAGAAGAAGTATGCC c.660
G R V A V E Y L D P S P E V Q K K K Y A p.220
. . . . . . g.13136
TTCAAATGTCACAGACTAAAAGAAAATAATATTGAGCAGATTTACCCAGTCAATGCCATT c.720
F K C H R L K E N N I E Q I Y P V N A I p.240
. . . | 07 . . . g.13394
TCTTTTCACAATATCCACAATACATTTGCCACAG | GTGGTTCTGATGGCTTTGTAAATATT c.780
S F H N I H N T F A T G | G S D G F V N I p.260
. . . . . . g.13454
TGGGATCCATTTAACAAAAAGCGACTGTGCCAATTCCATCGGTACCCCACGAGCATCGCA c.840
W D P F N K K R L C Q F H R Y P T S I A p.280
. . . . . . g.13514
TCACTTGCCTTCAGTAATGATGGGACTACGCTTGCAATAGCGTCATCATATATGTATGAA c.900
S L A F S N D G T T L A I A S S Y M Y E p.300
. . . . . . g.13574
ATGGATGACACAGAACATCCTGAAGATGGTATCTTCATTCGCCAAGTGACAGATGCAGAA c.960
M D D T E H P E D G I F I R Q V T D A E p.320
. | 08 . g.14625
ACAAAACCCAA | GTCACCATGTACTTGA c.987
T K P K | S P C T X p.328
. . . . . . g.14685
caagatttcatttacttaagtgccatgttgatgataataaaacaattcgtactccccaat c.*60
. . . . . . g.14745
ggtggatttattactattaaagaaaccagggaaaatattaattttaatattataacaacc c.*120
. . . . . . g.14805
tgaaaataatggaaaagaggtttttgaatttttttttttaaataaacaccttcttaagtg c.*180
. . . . . . g.14865
catgagatggtttgatggtttgctgcattaaaggtatttgggcaaacaaaattggagggc c.*240
. . . . . . g.14925
aagtgactgcagttttgagaatcagttttgaccttgatgattttttgtttccactgtgga c.*300
. . . . . . g.14985
aataaatgtttgtaaataagtgtaataaaaatccctttgcattctttctggaccttaaat c.*360
. . . . . . g.15045
ggtagaggaaaaggctcgtgagccatttgtttcttttgctggttatagttgctaattcta c.*420
. . . . . . g.15105
aagctgcttcagactgcttcatgaggaggttaatctacaattaaacaatatttcctcttg c.*480
. . . . . . g.15165
gccgtccattattttctgaagcagatggttcatcatttcctgggctgttaaacaaagcga c.*540
. . . . . . g.15225
ggttaaggttagactcttgggaatcagctagttttcaatcttattagggtgcagaaggaa c.*600
. . . . . . g.15285
aactaataagaaaacctcctaatatcattttgtgactgtaaacaattatttattagcaaa c.*660
. . . . . . g.15345
caattgatcccagaagggcaaattgtttgagtcagtaatgagctgagaaaagacagagca c.*720
. . . . . . g.15405
tatctgtgtatttggaaaaataattgtaacgtaattgcagtgcatttagacaggcatcta c.*780
. . . . . . g.15465
tttggacctgtttctatctctaaatgaatttttggaaacattaatgaggtttacatattt c.*840
. . . . . . g.15525
ctctgacatttatatagttcttatgtccatttcagttgaccagccgctggtgattaaagt c.*900
. . . . . . g.15585
taaaaagaaaaaaattatagtgagaatgagattcatttcaatgtaatgcactaaagcaga c.*960
. . . . . . g.15645
acacgaacttagcttggcctattctaggtagttccaaatagtatttttgttgtcaaactt c.*1020
. . . . . . g.15705
taaaatttatattaatttgcaaatgtatgtctctgagtaggacttggacctttcctgaga c.*1080
. . . . . . g.15765
tttattttatccgtgatgtattttttttaattcttttgatacagagaagggtcttttttt c.*1140
. . . . . . g.15825
ttttaagtatttcagtgaaaacttggtgtaagtctgaacccatcttttgaaatgtatttt c.*1200
. . . . . . g.15885
cttcattgcaggtccacctaatcatcctgtgaaagtggtttctctatggaaagctttgtt c.*1260
. . . . . . g.15945
tgcttcctacaaatacatgcttattccttaagggatgtgttagagttactgtggatttct c.*1320
. . . . . . g.16005
ctgttttctgtcttacaagaaacttgtctatgtaccttaatactttgtttaggatgagga c.*1380
. . . . . . g.16065
gtctttgtgtccctgtacagtagtctgacgtatttccccttctgtcccctagtaagccca c.*1440
. . . . . . g.16125
gttgctgtatctgaacagtttgagctctttttgtaatatactctaaacctgttatttctg c.*1500
. . . g.16160
tgctaataaacgagatgcagaacccttgaatgttg c.*1535
(downstream sequence)
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