(used for variant description)
(last modified August 31, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_004336.3 in the BUB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012048.1, covering BUB1 transcript NM_004336.3.
(upstream sequence)
. . . . . g.5052
ggcgccctgaaacgttcggcgagccgactgcggctgcgcggggtattcgaat c.-61
. . . . . . g.5112
cggcggcggcttctagtttgcggttcaggtttggccgctgccggccagcgtcctctggcc c.-1
. . | 02 . . . . g.8776
ATGGACACCCCGGAAAATGTCCTTCA | GATGCTTGAAGCCCACATGCAGAGCTACAAGGGC c.60
M D T P E N V L Q | M L E A H M Q S Y K G p.20
. . | 03 . . . . g.8917
AATGACCCTCTTGGTGAATGGGAAAG | ATACATACAGTGGGTAGAAGAGAATTTTCCTGAG c.120
N D P L G E W E R | Y I Q W V E E N F P E p.40
. . . . . . g.8977
AATAAAGAATACTTGATAACTTTACTAGAACATTTAATGAAGGAATTTTTAGATAAGAAG c.180
N K E Y L I T L L E H L M K E F L D K K p.60
. . . . | 04 . . g.10265
AAATACCACAATGACCCAAGATTCATCAGTTATTGTTTAAAATTT | GCTGAGTACAACAGT c.240
K Y H N D P R F I S Y C L K F | A E Y N S p.80
. . . . . . g.10325
GACCTCCATCAATTTTTTGAGTTTCTGTACAACCATGGGATTGGAACCCTGTCATCCCCT c.300
D L H Q F F E F L Y N H G I G T L S S P p.100
. . . . . . g.10385
CTGTACATTGCCTGGGCGGGGCATCTGGAAGCCCAAGGAGAGCTGCAGCATGCCAGTGCT c.360
L Y I A W A G H L E A Q G E L Q H A S A p.120
. . . . . . g.10445
GTCCTTCAGAGAGGAATTCAAAACCAGGCTGAACCCAGAGAGTTCCTGCAACAACAATAC c.420
V L Q R G I Q N Q A E P R E F L Q Q Q Y p.140
| 05 . . . . | 06 . . g.13568
AG | GTTATTTCAGACACGCCTCACTGAAACCCATTTGCCAGCTCAAG | CTAGAACCTCAGAA c.480
R | L F Q T R L T E T H L P A Q A | R T S E p.160
. . . . . . g.13628
CCTCTGCATAATGTTCAGGTTTTAAATCAAATGATAACATCAAAATCAAATCCAGGAAAT c.540
P L H N V Q V L N Q M I T S K S N P G N p.180
. . | 07. . . . g.15291
AACATGGCCTGCATTTCTAAGAATCAG | GGTTCAGAGCTTTCTGGAGTGATATCTTCAGCT c.600
N M A C I S K N Q | G S E L S G V I S S A p.200
. . | 08 . . . . g.15442
TGTGATAAAGAGTCAAATAT | GGAACGAAGAGTGATCACGATTTCTAAATCAGAATATTCT c.660
C D K E S N M | E R R V I T I S K S E Y S p.220
. . . . . . g.15502
GTGCACTCATCTTTGGCATCCAAAGTTGATGTTGAGCAGGTTGTTATGTATTGCAAGGAG c.720
V H S S L A S K V D V E Q V V M Y C K E p.240
. . . . . . g.15562
AAGCTTATTCGTGGGGAATCAGAATTTTCCTTTGAAGAATTGAGAGCCCAGAAATACAAT c.780
K L I R G E S E F S F E E L R A Q K Y N p.260
. . | 09 . . . . g.16728
CAACGGAGAAAGCATGAGCAATGGG | TAAATGAAGACAGACATTATATGAAAAGGAAAGAA c.840
Q R R K H E Q W V | N E D R H Y M K R K E p.280
. . . . . . g.16788
GCAAATGCTTTTGAAGAACAGCTATTAAAACAGAAAATGGATGAACTTCATAAGAAGTTG c.900
A N A F E E Q L L K Q K M D E L H K K L p.300
. . . . . | 10. g.21269
CATCAGGTGGTGGAGACATCCCATGAGGATCTGCCCGCTTCCCAGGAAAGGTCCGAG | GTT c.960
H Q V V E T S H E D L P A S Q E R S E | V p.320
. . . . . . g.21329
AATCCAGCACGTATGGGGCCAAGTGTAGGCTCCCAGCAGGAACTGAGAGCGCCATGTCTT c.1020
N P A R M G P S V G S Q Q E L R A P C L p.340
. . . . . . g.21389
CCAGTAACCTATCAGCAGACACCAGTGAACATGGAAAAGAACCCAAGAGAGGCACCTCCT c.1080
P V T Y Q Q T P V N M E K N P R E A P P p.360
. . . . . . g.21449
GTTGTTCCTCCTTTGGCAAATGCTATTTCTGCAGCTTTGGTGTCCCCAGCCACCAGCCAG c.1140
V V P P L A N A I S A A L V S P A T S Q p.380
. . . . . . g.21509
AGCATTGCTCCTCCTGTTCCTTTGAAAGCCCAGACAGTAACAGACTCCATGTTTGCAGTG c.1200
S I A P P V P L K A Q T V T D S M F A V p.400
. | 11. . . . . g.23114
GCCAGCAAAGATGCTGG | ATGTGTGAATAAGAGTACTCATGAATTCAAGCCACAGAGTGGA c.1260
A S K D A G | C V N K S T H E F K P Q S G p.420
. | 12 . . . . . g.24409
GCAGAGATCAAAGAAG | GGTGTGAAACACATAAGGTTGCCAACACAAGTTCTTTTCACACA c.1320
A E I K E G | C E T H K V A N T S S F H T p.440
. . . . . . g.24469
ACTCCAAACACATCACTGGGAATGGTTCAGGCAACGCCATCCAAAGTGCAGCCATCACCC c.1380
T P N T S L G M V Q A T P S K V Q P S P p.460
. . | 13 . . . . g.24622
ACCGTGCACACAAAAGAAGCATTAG | GTTTCATCATGAATATGTTTCAGGCTCCTACACTT c.1440
T V H T K E A L G | F I M N M F Q A P T L p.480
. . . . . . g.24682
CCTGATATTTCTGATGACAAAGATGAATGGCAATCTCTAGATCAAAATGAAGATGCATTT c.1500
P D I S D D K D E W Q S L D Q N E D A F p.500
. | 14 . . . . . g.25506
GAAGCCCAGTTTCAAA | AAAATGTAAGGTCATCTGGGGCTTGGGGAGTCAATAAGATCATC c.1560
E A Q F Q K | N V R S S G A W G V N K I I p.520
. . . . . | 15 . g.25994
TCTTCTTTGTCATCTGCTTTTCATGTGTTTGAAGATGGAAACAAAGAAAATTATGG | ATTA c.1620
S S L S S A F H V F E D G N K E N Y G | L p.540
. . . . . . g.26054
CCACAGCCTAAAAATAAACCCACAGGAGCCAGGACCTTTGGAGAACGCTCTGTCAGCAGA c.1680
P Q P K N K P T G A R T F G E R S V S R p.560
. | 16 . . . . g.27233
CTTCCTTCAAAACCAAAG | GAGGAAGTGCCTCATGCTGAAGAGTTTTTGGATGACTCAACT c.1740
L P S K P K | E E V P H A E E F L D D S T p.580
. . . . . . g.27293
GTATGGGGTATTCGCTGCAACAAAACCCTGGCACCCAGTCCTAAGAGCCCAGGAGACTTC c.1800
V W G I R C N K T L A P S P K S P G D F p.600
. . . . . . g.27353
ACATCTGCTGCACAACTTGCGTCTACACCATTCCACAAGCTTCCAGTGGAGTCAGTGCAC c.1860
T S A A Q L A S T P F H K L P V E S V H p.620
. | 17 . . . . . g.29628
ATTTTAGAAGATAAAG | AAAATGTGGTAGCAAAACAGTGTACCCAGGCGACTTTGGATTCT c.1920
I L E D K E | N V V A K Q C T Q A T L D S p.640
. . . . | 18 . . g.32339
TGTGAGGAAAACATGGTGGTGCCTTCAAGGGATGGAAAATTCAG | TCCAATTCAAGAGAAA c.1980
C E E N M V V P S R D G K F S | P I Q E K p.660
. . . . . . g.32399
AGCCCAAAACAGGCCTTGTCGTCTCACATGTATTCAGCATCCTTACTTCGTCTGAGCCAG c.2040
S P K Q A L S S H M Y S A S L L R L S Q p.680
. . . . . . g.32459
CCTGCTGCAGGTGGGGTACTTACCTGTGAGGCAGAGTTGGGCGTTGAGGCTTGCAGACTC c.2100
P A A G G V L T C E A E L G V E A C R L p.700
. . . . . . g.32519
ACAGACACTGACGCTGCCATTGCAGAAGATCCACCAGATGCTATTGCTGGGCTCCAAGCA c.2160
T D T D A A I A E D P P D A I A G L Q A p.720
. . . . | 19 . . g.33747
GAATGGATGCAGATGAGTTCACTTGGGACTGTTGATGCTCCAA | ACTTCATTGTTGGGAAC c.2220
E W M Q M S S L G T V D A P N | F I V G N p.740
. . . . . . g.33807
CCATGGGATGATAAGCTGATTTTCAAACTTTTATCTGGGCTTTCTAAACCAGTGAGTTCC c.2280
P W D D K L I F K L L S G L S K P V S S p.760
. . . . . . g.33867
TATCCAAATACTTTTGAATGGCAATGTAAACTTCCAGCCATCAAGCCCAAGACTGAATTT c.2340
Y P N T F E W Q C K L P A I K P K T E F p.780
| 20. . . . . . g.40926
CAATTGG | GTTCTAAGCTGGTCTATGTCCATCACCTTCTTGGAGAAGGAGCCTTTGCCCAG c.2400
Q L G | S K L V Y V H H L L G E G A F A Q p.800
. . . . . . g.40986
GTGTACGAAGCTACCCAGGGAGATCTGAATGATGCTAAAAATAAACAGAAATTTGTTTTA c.2460
V Y E A T Q G D L N D A K N K Q K F V L p.820
| 21 . . . . . . g.41361
AAG | GTCCAAAAGCCTGCCAACCCCTGGGAATTCTACATTGGGACCCAGTTGATGGAAAGA c.2520
K | V Q K P A N P W E F Y I G T Q L M E R p.840
. . . . . . g.41421
CTAAAGCCATCTATGCAGCACATGTTTATGAAGTTCTATTCTGCCCACTTATTCCAGAAT c.2580
L K P S M Q H M F M K F Y S A H L F Q N p.860
. . . . | 22 . . g.41658
GGCAGTGTATTAGTAGGAGAGCTCTACAGCTATGGAACATTATTA | AATGCCATTAACCTC c.2640
G S V L V G E L Y S Y G T L L | N A I N L p.880
. . . . . . g.41718
TATAAAAATACCCCTGAAAAAGTGATGCCTCAAGGTCTTGTCATCTCTTTTGCTATGAGA c.2700
Y K N T P E K V M P Q G L V I S F A M R p.900
. . . . . . g.41778
ATGCTTTACATGATTGAGCAAGTGCATGACTGTGAAATCATTCATGGAGACATTAAACCA c.2760
M L Y M I E Q V H D C E I I H G D I K P p.920
. . | 23 . . . . g.41939
GACAATTTCATACTTGGAAACGG | ATTTTTGGAACAGGATGATGAAGATGATTTATCTGCT c.2820
D N F I L G N G | F L E Q D D E D D L S A p.940
. . . . . . g.41999
GGCTTGGCACTGATTGACCTGGGTCAGAGTATAGATATGAAACTTTTTCCAAAAGGAACT c.2880
G L A L I D L G Q S I D M K L F P K G T p.960
. . . . . . g.42059
ATATTCACAGCAAAGTGTGAAACATCTGGTTTTCAGTGTGTTGAGATGCTCAGCAACAAA c.2940
I F T A K C E T S G F Q C V E M L S N K p.980
. | 24 . . . . . g.43304
CCATGGAACTACCAG | ATCGATTACTTTGGGGTTGCTGCAACAGTATATTGCATGCTCTTT c.3000
P W N Y Q | I D Y F G V A A T V Y C M L F p.1000
. . . . . . g.43364
GGCACTTACATGAAAGTGAAAAATGAAGGAGGAGAGTGTAAGCCTGAAGGTCTTTTTAGA c.3060
G T Y M K V K N E G G E C K P E G L F R p.1020
| 25 . . . . . . g.45006
AG | GCTTCCTCATTTGGATATGTGGAATGAATTTTTTCATGTTATGTTGAATATTCCAGAT c.3120
R | L P H L D M W N E F F H V M L N I P D p.1040
. . . . . . g.45066
TGTCATCATCTTCCATCTTTGGATTTGTTAAGGCAAAAGCTGAAGAAAGTATTTCAACAA c.3180
C H H L P S L D L L R Q K L K K V F Q Q p.1060
. . . . . . g.45126
CACTATACTAACAAGATTAGGGCCCTACGTAATAGGCTAATTGTACTGCTCTTAGAATGT c.3240
H Y T N K I R A L R N R L I V L L L E C p.1080
. g.45144
AAGCGTTCACGAAAATAA c.3258
K R S R K X p.1085
. . . . . . g.45204
aatttggatatagacagtccttaaaaatcacactgtaaatatgaatctgctcactttaaa c.*60
. . . . . . g.45264
cctgtttttttttcatttattgtttatgtaaatgtttgttaaaaataaatcccatggaat c.*120
. g.45276
atttccatgtaa c.*132
(downstream sequence)
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