(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_022045.4 in the MTBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033151.1, covering MTBP transcript NM_022045.4.
(upstream sequence)
. g.5013
gaaatgcgtcata c.-61
. . . . . . g.5073
gcgcgcgtctgtttggatgtggaagccgagacctaaagttggggggtgatctctgaggag c.-1
. . . . . . g.5133
ATGGATCGGTACCTGCTGCTGGTGATCTGGGGGGAAGGAAAATTCCCGTCGGCGGCCAGT c.60
M D R Y L L L V I W G E G K F P S A A S p.20
. . . . . | 02 g.6037
AGGGAGGCAGAACATGGGCCAGAGGTGTCGTCGGGTGAGGGTACTGAGAATCAGCCGG | AC c.120
R E A E H G P E V S S G E G T E N Q P D | p.40
. . . . . . g.6097
TTCACAGCAGCAAATGTTTATCACCTCTTGAAAAGAAGCATTAGTGCTTCAATTAATCCA c.180
F T A A N V Y H L L K R S I S A S I N P p.60
. | 03 . . . . g.10646
GAAGATAGTACTTTCCCTG | CCTGTTCAGTGGGAGGTATACCTGGTTCCAAGAAGTGGTTC c.240
E D S T F P A | C S V G G I P G S K K W F p.80
. . . | 04 . . . g.10800
TTTGCAGTGCAGGCAATATATGGATTTTATCAG | TTTTGTAGTTCTGATTGGCAAGAGATA c.300
F A V Q A I Y G F Y Q | F C S S D W Q E I p.100
. . . . . . g.10860
CATTTTGATACAGAAAAAGATAAAATTGAAGATGTTCTTCAAACGAATATCGAAGAATGT c.360
H F D T E K D K I E D V L Q T N I E E C p.120
. . . . . . g.10920
TTGGGTGCTGTTGAGTGTTTTGAAGAAGAAGACAGTAATAGCAGGGAATCATTATCCTTG c.420
L G A V E C F E E E D S N S R E S L S L p.140
| 05 . . . . . . g.13504
GCTGA | TCTCTATGAAGAAGCTGCAGAAAATTTGCATCAGCTGTCAGACAAGCTTCCTGCT c.480
A D | L Y E E A A E N L H Q L S D K L P A p.160
| 06 . . . . . . g.15093
CCTG | GTAGAGCAATGGTAGATATAATACTGTTGCTTTCTGACAAAGATCCTCCTAAATTG c.540
P G | R A M V D I I L L L S D K D P P K L p.180
. . . . . . g.15153
AAAGACTATTTACCTACTGTAGGAGCATTAAAACATTTGAGAGAATGGTATTCAGCAAAG c.600
K D Y L P T V G A L K H L R E W Y S A K p.200
. . | 07 . . . g.16186
ATCACTATAGCAGGAAATCATTGTGAAAT | AAACTGTCAGAAAATTGCAGAATACCTTTCT c.660
I T I A G N H C E I | N C Q K I A E Y L S p.220
. . . . . . g.16246
GCTAATGTTGTATCTTTAGAAGATCTCAGAAATGTTATTGACTCAAAGGAATTATGGAGG c.720
A N V V S L E D L R N V I D S K E L W R p.240
. . | 08. . . . g.18850
GGGAAAATACAGATATGGGAAAGAAAG | TTTGGATTTGAAATTAGTTTTCCTGAATTTTGT c.780
G K I Q I W E R K | F G F E I S F P E F C p.260
. . . . . . g.18910
TTAAAGGGAGTCACACTTAAGAATTTTAGTACTTCTAATTTAAATACTGACTTCCTTGCC c.840
L K G V T L K N F S T S N L N T D F L A p.280
. . . . | 09 . . g.20781
AAAAAGATCATACCATCAAAGGATAAGAATATTTTGCCAAAG | GTTTTCCATTATTATGGC c.900
K K I I P S K D K N I L P K | V F H Y Y G p.300
. . . . . . g.20841
CCTGCTTTAGAATTTGTGCAGATGATAAAATTATCAGATCTACCCTCCTGCTATATGTCG c.960
P A L E F V Q M I K L S D L P S C Y M S p.320
. | 10. . . . . g.23337
GATATTGAATTTGAGTT | AGGATTGACAAACAGTACCAAACAGAATTCTGTGTTGCTGTTG c.1020
D I E F E L | G L T N S T K Q N S V L L L p.340
. . | 11. . . . g.30455
GAGCAGATTTCTTCTCTGTGTAGCAAG | GTTGGTGCTCTTTTTGTATTGCCATGTACCATT c.1080
E Q I S S L C S K | V G A L F V L P C T I p.360
. . . . . . g.30515
AGTAACATACTGATTCCACCTCCCAACCAACTCAGTTCAAGAAAATGGAAGGAATATATA c.1140
S N I L I P P P N Q L S S R K W K E Y I p.380
. . | 12 . . . . g.47796
GCTAAAAAGCCTAAAACAATCAGTG | TTCCAGATGTTGAAGTGAAAGGAGAGTGTTCTAGC c.1200
A K K P K T I S V | P D V E V K G E C S S p.400
. . . . . . g.47856
TATTATCTCTTGTTACAAGGTAATGGCAATAGAAGATGTAAAGCCACATTGATTCACTCA c.1260
Y Y L L L Q G N G N R R C K A T L I H S p.420
. . . . . . g.47916
GCCAACCAGATCAATGGCTCATTTGCACTCAATTTAATTCATGGAAAGATGAAAACAAAG c.1320
A N Q I N G S F A L N L I H G K M K T K p.440
. | 13 . . . . g.50106
ACAGAAGAAGCCAAATTGA | GTTTTCCTTTTGACTTATTATCACTTCCACATTTTTCTGGG c.1380
T E E A K L S | F P F D L L S L P H F S G p.460
. . . . . . g.50166
GAGCAGATTGTACAGAGAGAGAAACAGTTAGCTAATGTTCAAGTTTTAGCTTTGGAAGAA c.1440
E Q I V Q R E K Q L A N V Q V L A L E E p.480
| 14. . . . . . g.57048
TGCCTAA | AAAGACGAAAGTTGGCAAAGCAGCCTGAAACAGTTTCTGTTGCTGAACTCAAA c.1500
C L K | R R K L A K Q P E T V S V A E L K p.500
. . . . . . g.57108
AGTCTGTTAGTACTCACAAGGAAACACTTTTTAGATTATTTTGATGCTGTGATTCCTAAA c.1560
S L L V L T R K H F L D Y F D A V I P K p.520
. . . . | 15 . g.62105
ATGATTCTAAGAAAGATGGACAAAATTAAAACCTTCAATATATTAAATG | ATTTTAGTCCA c.1620
M I L R K M D K I K T F N I L N D | F S P p.540
. . . . . . g.62165
GTGGAACCTAATTCCTCAAGTCTAATGGAAACCAATCCTCTGGAATGGCCAGAAAGGCAT c.1680
V E P N S S S L M E T N P L E W P E R H p.560
. . . . | 16. . g.66321
GTTCTTCAAAATTTGGAAACTTTTGAAAAAACTAAACAAAAAATGAG | AACTGGTTCATTA c.1740
V L Q N L E T F E K T K Q K M R | T G S L p.580
. . . . . . g.66381
CCTCATTCATCTGAACAGTTGCTGGGCCACAAAGAGGGTCCTCGGGACTCAATCACATTG c.1800
P H S S E Q L L G H K E G P R D S I T L p.600
. . . . . . g.66441
TTGGATGCTAAAGAATTGCTGAAGTACTTTACCTCAGATGGATTACCCATTGGAGATCTT c.1860
L D A K E L L K Y F T S D G L P I G D L p.620
. . | 17 . . . . g.69573
CAACCTTTACCGATTCAAAAGGG | GGAAAAGACTTTTGTTTTGACACCAGAACTTAGTCCT c.1920
Q P L P I Q K G | E K T F V L T P E L S P p.640
. . . . . | 18 g.75528
GGGAAACTTCAGGTCTTACCTTTTGAGAAAGCCTCAGTATGTCATTATCATGGAATTGA | A c.1980
G K L Q V L P F E K A S V C H Y H G I E | p.660
. . . . . . g.75588
TATTGCTTGGATGACCGAAAAGCTTTGGAAAGAGATGGAGGATTTTCTGAACTTCAGTCT c.2040
Y C L D D R K A L E R D G G F S E L Q S p.680
. . . . . . g.75648
CGTCTTATTCGTTATGAAACTCAAACTACCTGCACCAGAGAAAGTTTTCCAGTACCTACT c.2100
R L I R Y E T Q T T C T R E S F P V P T p.700
. . . . . . g.75708
GTGTTGAGCCCTCTTCCATCTCCTGTAGTTTCGTCAGATCCTGGAAGTGTCCCTGACGGA c.2160
V L S P L P S P V V S S D P G S V P D G p.720
. . . . . . g.75768
GAAGTTTTACAAAATGAACTTCGAACTGAAGTATCCCGATTGAAACGGAGATCTAAAGAT c.2220
E V L Q N E L R T E V S R L K R R S K D p.740
. . | 19 . . . . g.77487
CTGAATTGCCTTTATCCCAGAAAAAG | ACTTGTGAAATCTGAAAGTTCAGAGTCTCTTCTT c.2280
L N C L Y P R K R | L V K S E S S E S L L p.760
. . . . . . g.77547
TCTCAGACAACTGGTAATAGTAATCACTATCATCATCATGTGACATCCAGAAAGCCACAA c.2340
S Q T T G N S N H Y H H H V T S R K P Q p.780
. . . . . . g.77607
ACAGAACGGTCCTTACCAGTGACTTGTCCATTGGTTCCAATTCCTAGCTGTGAAACTCCA c.2400
T E R S L P V T C P L V P I P S C E T P p.800
. . . . . . g.77667
AAACTTGCTACAAAGACCAGTTCAGGTCAAAAAAGTATGCATGAATCAAAAACATCAAGG c.2460
K L A T K T S S G Q K S M H E S K T S R p.820
. . . | 20 . . . g.78330
CAAATTAAGGAATCAAGATCACAGAAACACACACGG | ATACTGAAAGAAGTAGTTACTGAA c.2520
Q I K E S R S Q K H T R | I L K E V V T E p.840
. . . . . . g.78390
ACCCTGAAGAAACACAGTATTACCGAGACTCATGAATGTTTCACTGCATGCAGCCAGCGT c.2580
T L K K H S I T E T H E C F T A C S Q R p.860
. . . | 21 . . . g.82286
CTCTTTGAAATCTCTAAGTTCTATCTAAAG | GATCTTAAAACTTCAAGGGGTCTATTTGAA c.2640
L F E I S K F Y L K | D L K T S R G L F E p.880
. . . | 22 . . . g.82924
GAAATGAAGAAAACAGCAAACAACAATGCTGTACAG | GTGATTGACTGGGTATTAGAAAAG c.2700
E M K K T A N N N A V Q | V I D W V L E K p.900
. g.82939
ACAAGCAAGAAATGA c.2715
T S K K X p.904
. . . . . . g.82999
tacataatcattctctttaagacaattataaattggatggagctattattcactacttct c.*60
. . . . . . g.83059
tttcttagtttgaaaattataaacaaattttaagctttattcaaagaatagatgttatat c.*120
. . . . . . g.83119
ttctaaagaatttcatgaatatatattctatatttgtatagtttgagggatgctatgtta c.*180
. . . . . . g.83179
atgtatttttaattagatacatattttgtaaagtgttactatattttaaagttattttta c.*240
. . . . . g.83238
tatgttttaaaatgtttactcttatttaattattacaataaacagaatttttttttttt c.*299
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19
©2004-2017 Leiden University Medical Center