(used for variant description)
(last modified October 28, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_015221.2 in the DNMBP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering DNMBP transcript NM_015221.2.
(upstream sequence)
. . . g.5032
aggggcggaggtgacagcgggctggggactgg c.-61
. . . . . | 02 g.42795
cggctgcaactgcctgccgcgccgagggaccgccgggcggcggaaagcag | gttataaaac c.-1
. . . . . . g.42855
ATGGAGGCTGGCTCAGTGGTTCGAGCCATTTTTGACTTCTGCCCTAGCGTATCAGAAGAA c.60
M E A G S V V R A I F D F C P S V S E E p.20
. . . . . . g.42915
CTGCCGCTCTTTGTGGGAGATATTATTGAGGTGCTGGCAGTGGTGGATGAATTTTGGCTT c.120
L P L F V G D I I E V L A V V D E F W L p.40
. . | 03 . . . . g.45717
CTAGGAAAGAAGGAGGATGTTACAG | GACAATTCCCCAGCAGTTTTGTGGAAATTGTGACC c.180
L G K K E D V T G | Q F P S S F V E I V T p.60
. . . . . . g.45777
ATTCCCAGTCTAAAAGAGGGAGAGAGGCTGTTTGTGTGCATTTGTGAATTCACATCCCAA c.240
I P S L K E G E R L F V C I C E F T S Q p.80
. . | 04 . . . g.57746
GAGTTGGATAATCTTCCCCTCCATCGAG | GTGACCTGGTGATTCTCGATGGCATTCCCACT c.300
E L D N L P L H R G | D L V I L D G I P T p.100
. . . . . . g.57806
GCAGGCTGGCTGCAGGGCCGAAGCTGCTGGGGCGCACGGGGCTTCTTCCCATCTTCATGT c.360
A G W L Q G R S C W G A R G F F P S S C p.120
. . . . . . g.57866
GTCCGCGAGCTCTGCCTCTCCTCACAGAGCCGGCAGTGGCACTCCCAGAGCGCCCTGTTT c.420
V R E L C L S S Q S R Q W H S Q S A L F p.140
. . . . . . g.57926
CAGATTCCGGAATATTCCATGGGACAAGCCCGGGCCCTAATGGGGCTTTCTGCTCAGCTG c.480
Q I P E Y S M G Q A R A L M G L S A Q L p.160
. . . . . . g.57986
GATGAAGAGCTGGACTTCAGGGAAGGGGATGTGATCACCATTATTGGAGTTCCTGAACCA c.540
D E E L D F R E G D V I T I I G V P E P p.180
. . . . . . g.58046
GGCTGGTTTGAAGGGGAGTTAGAGGGCCGAAGAGGCATTTTTCCAGAAGGTTTTGTAGAG c.600
G W F E G E L E G R R G I F P E G F V E p.200
. . . . . . g.58106
CTGTTGGGGCCCCTGAGGACTGTGGATGAGTCAGTAAGTTCTGGAAATCAAGATGACTGC c.660
L L G P L R T V D E S V S S G N Q D D C p.220
. . . . . . g.58166
ATTGTTAATGGTGAAGTAGATACCCCTGTAGGAGAAGAAGAGATAGGGCCGGATGAGGAT c.720
I V N G E V D T P V G E E E I G P D E D p.240
. . . . . . g.58226
GAGGAGGAGCCAGGGACCTATGGGGTCGCCCTGTACAGATTCCAAGCCCTGGAGCCAAAT c.780
E E E P G T Y G V A L Y R F Q A L E P N p.260
. . . . . . g.58286
GAGCTGGATTTCGAGGTCGGGGATAAAATCCGAATTCTGGCGACCTTGGAAGATGGCTGG c.840
E L D F E V G D K I R I L A T L E D G W p.280
. . . . . . g.58346
CTGGAAGGATCCCTGAAGGGCAGGACAGGCATCTTTCCTTACCGGTTTGTGAAATTATGT c.900
L E G S L K G R T G I F P Y R F V K L C p.300
. . . . . . g.58406
CCTGACACACGGGTGGAGGAAACCATGGCTCTGCCCCAGGAAGGCAGCCTTGCCAGGATC c.960
P D T R V E E T M A L P Q E G S L A R I p.320
. . . . . . g.58466
CCGGAAACTTCTTTGGATTGTTTGGAGAACACCTTAGGAGTAGAGGAACAAAGACATGAA c.1020
P E T S L D C L E N T L G V E E Q R H E p.340
. . . . . . g.58526
ACCAGTGACCATGAGGCCGAGGAGCCTGACTGCATTATTTCTGAAGCACCCACTTCTCCC c.1080
T S D H E A E E P D C I I S E A P T S P p.360
. . . . . . g.58586
CTCGGTCATCTGACTTCAGAGTATGACACAGACAGAAACTCTTATCAGGACGAGGACACC c.1140
L G H L T S E Y D T D R N S Y Q D E D T p.380
. . . . . . g.58646
GCAGGAGGGCCCCCGAGAAGCCCAGGCGTGGAGTGGGAAATGCCTCTTGCCACAGACTCT c.1200
A G G P P R S P G V E W E M P L A T D S p.400
. . . . . . g.58706
CCCACATCTGACCCTACAGAAGTAGTCAATGGTATTTCCTCCCAACCTCAGGTCCCTTTT c.1260
P T S D P T E V V N G I S S Q P Q V P F p.420
. . . . . . g.58766
CATCCCAACTTGCAGAAAAGCCAGTATTATTCTACAGTGGGAGGGAGCCACCCGCACTCA c.1320
H P N L Q K S Q Y Y S T V G G S H P H S p.440
. . . . . . g.58826
GAACAGTACCCCGACCTTCTTCCCCTAGAAGCAAGGACTAGAGACTATGCCAGCCTACCT c.1380
E Q Y P D L L P L E A R T R D Y A S L P p.460
. . . . . . g.58886
CCCAAAAGAATGTATTCCCAGCTAAAAACTCTTCAGAAGCCAGTGCTCCCTCTTTACAGG c.1440
P K R M Y S Q L K T L Q K P V L P L Y R p.480
. . . . . . g.58946
GGCTCTTCTGTTTCAGCTTCAAGGGTAGTCAAACCCAGACAATCAAGTCCTCAGCTCCAC c.1500
G S S V S A S R V V K P R Q S S P Q L H p.500
. . . . . . g.59006
AACCTAGCAAGTTATACTAAAAAGCACCACACGTCCAGTGTTTACTCCATCTCAGAGAGA c.1560
N L A S Y T K K H H T S S V Y S I S E R p.520
. . . . . . g.59066
TTGGAGATGAAGCCTGGTCCGCAAGCCCAAGGGCTTGTTATGGAAGCAGCAACACATTCA c.1620
L E M K P G P Q A Q G L V M E A A T H S p.540
. . . . . . g.59126
CAGGGAGACGGCAGCACTGACCTGGACTCGAAGCTGACACAACAGCTGATCGAGTTTGAG c.1680
Q G D G S T D L D S K L T Q Q L I E F E p.560
. . . . . . g.59186
AAGAGCTTGGCAGGGCCCGGCACAGAGCCAGATAAAATTTTACGCCACTTTTCAATCATG c.1740
K S L A G P G T E P D K I L R H F S I M p.580
. . . . . . g.59246
GACTTTAACTCTGAGAAGGATATTGTCCGAGGTTCCTCAAAGTTAATCACCGAGCAGGAG c.1800
D F N S E K D I V R G S S K L I T E Q E p.600
. . . . . . g.59306
CTGCCGGAAAGGAGAAAGGCCCTAAGGCCACCGCCACCTCGTCCCTGTACTCCGGTATCC c.1860
L P E R R K A L R P P P P R P C T P V S p.620
. . . . . . g.59366
ACTTCTCCCCATTTGCTGGTTGACCAGAACCTAAAACCTGCACCACCCTTGGTGGTGCGA c.1920
T S P H L L V D Q N L K P A P P L V V R p.640
. . . . . . g.59426
CCCTCTCGCCCAGCTCCCCTGCCTCCCTCAGCACAGCAGAGAACGAATGCGGTATCCCCC c.1980
P S R P A P L P P S A Q Q R T N A V S P p.660
. . . . . . g.59486
AAGCTCCTATCTCGACACCGTCCTACCTGTGAGACCTTAGAAAAGGAGGGCCCTGGTCAT c.2040
K L L S R H R P T C E T L E K E G P G H p.680
. . . . . . g.59546
ATGGGAAGGAGTCTGGACCAGACCTCCCCATGCCCCTTAGTGCTGGTGAGGATTGAGGAA c.2100
M G R S L D Q T S P C P L V L V R I E E p.700
. . . . . . g.59606
ATGGAGCGGGACTTGGATATGTACAGTAGAGCTCAAGAAGAGCTAAACCTCATGCTGGAG c.2160
M E R D L D M Y S R A Q E E L N L M L E p.720
. . . . . . g.59666
GAGAAGCAGGATGAATCATCAAGAGCAGAGACCCTCGAGGATCTCAAGTTCTGTGAAAGT c.2220
E K Q D E S S R A E T L E D L K F C E S p.740
. . . . | 05 . . g.105793
AACATTGAAAGTTTGAATATGGAACTCCAGCAACTAAGAG | AAATGACGCTCCTCTCCTCC c.2280
N I E S L N M E L Q Q L R E | M T L L S S p.760
. . . . . . g.105853
CAGTCTTCATCACTGGTGGCCCCTTCTGGGTCTGTGTCTGCCGAAAATCCAGAGCAGAGG c.2340
Q S S S L V A P S G S V S A E N P E Q R p.780
. . . . . . g.105913
ATGCTGGAGAAGAGAGCCAAGGTCATAGAAGAACTTCTTCAGACAGAAAGAGACTACATT c.2400
M L E K R A K V I E E L L Q T E R D Y I p.800
. . . . . | 06 . g.106831
CGGGATCTGGAAATGTGTATTGAGCGGATCATGGTACCCATGCAGCAGGCACAG | GTACCA c.2460
R D L E M C I E R I M V P M Q Q A Q | V P p.820
. . . . . . g.106891
AACATTGATTTTGAGGGACTTTTTGGAAATATGCAGATGGTGATTAAGGTCTCGAAGCAA c.2520
N I D F E G L F G N M Q M V I K V S K Q p.840
. . . | 07 . . . g.114879
TTATTGGCTGCTCTGGAAATCAGCGATGCTGTAG | GACCTGTGTTTCTTGGTCACCGGGAT c.2580
L L A A L E I S D A V G | P V F L G H R D p.860
. . . . . . g.114939
GAGCTTGAGGGAACATACAAGATTTACTGCCAGAATCATGATGAGGCCATTGCGCTGCTT c.2640
E L E G T Y K I Y C Q N H D E A I A L L p.880
. . . . . . g.114999
GAAATCTACGAGAAGGATGAGAAGATCCAGAAGCATCTTCAGGACTCCTTGGCAGATCTG c.2700
E I Y E K D E K I Q K H L Q D S L A D L p.900
| 08 . . | 09 . . . . g.116674
AA | GAGCCTATACAACGAATG | GGGATGCACAAATTATATTAACCTGGGCTCCTTCCTCATC c.2760
K | S L Y N E W | G C T N Y I N L G S F L I p.920
. . . . . . g.116734
AAACCAGTACAGAGAGTAATGCGTTACCCGCTGTTGCTAATGGAGTTGCTGAATTCCACC c.2820
K P V Q R V M R Y P L L L M E L L N S T p.940
. . . . . . g.116794
CCAGAATCCCACCCAGATAAAGTGCCTTTAACCAATGCAGTCCTTGCGGTCAAGGAAATC c.2880
P E S H P D K V P L T N A V L A V K E I p.960
. . . . | 10 . . g.118542
AACGTTAACATTAATGAATATAAACGGCGAAAGGACCTGG | TCCTCAAGTACCGTAAGGGT c.2940
N V N I N E Y K R R K D L V | L K Y R K G p.980
. . . . . . g.118602
GATGAAGATAGCCTTATGGAGAAAATTTCCAAACTGAACATCCACTCCATCATCAAGAAA c.3000
D E D S L M E K I S K L N I H S I I K K p.1000
. . . . . | 11 . g.119878
TCCAACCGAGTTAGCAGTCACCTGAAGCATCTCACTGGCTTTGCTCCTCAG | ATAAAAGAT c.3060
S N R V S S H L K H L T G F A P Q | I K D p.1020
. . . . . . g.119938
GAAGTATTTGAAGAAACAGAAAAAAACTTCCGAATGCAAGAAAGATTGATTAAGTCTTTT c.3120
E V F E E T E K N F R M Q E R L I K S F p.1040
. . . | 12 . . . g.125990
ATCCGAGACCTGTCTCTCTACCTCCAGCACATCCGG | GAGTCCGCATGTGTGAAAGTGGTG c.3180
I R D L S L Y L Q H I R | E S A C V K V V p.1060
. . . . . . g.126050
GCTGCTGTGAGCATGTGGGATGTGTGCATGGAGAGAGGACACCGGGACCTGGAGCAGTTT c.3240
A A V S M W D V C M E R G H R D L E Q F p.1080
. . . . | 13 . . g.128302
GAGAGGGTGCATCGCTACATCAGTGACCAGCTCTTCACAAACTTT | AAGGAGAGGACAGAG c.3300
E R V H R Y I S D Q L F T N F | K E R T E p.1100
. . . . . . g.128362
CGGCTTGTCATCTCCCCCTTAAATCAGTTACTGAGCATGTTTACAGGGCCCCATAAGCTG c.3360
R L V I S P L N Q L L S M F T G P H K L p.1120
. . . . . . g.128422
GTACAGAAACGCTTTGACAAGCTCCTGGACTTCTATAACTGTACAGAACGGGCAGAAAAG c.3420
V Q K R F D K L L D F Y N C T E R A E K p.1140
. . . . . . g.128482
CTAAAGGACAAGAAGACCCTGGAGGAGCTGCAGTCGGCCCGGAACAACTATGAGGCCCTG c.3480
L K D K K T L E E L Q S A R N N Y E A L p.1160
. . . . . . g.128542
AATGCACAGCTGCTGGATGAGCTGCCCAAGTTCCACCAGTACGCCCAGGGCCTCTTCACC c.3540
N A Q L L D E L P K F H Q Y A Q G L F T p.1180
. . . . . . g.128602
AACTGTGTCCACGGCTATGCTGAAGCCCACTGTGACTTTGTGCACCAGGCTCTGGAGCAA c.3600
N C V H G Y A E A H C D F V H Q A L E Q p.1200
. | 14 . . . . g.129095
TTAAAGCCACTGCTTTCG | TTACTCAAAGTGGCTGGCAGAGAGGGAAACCTTATTGCCATC c.3660
L K P L L S | L L K V A G R E G N L I A I p.1220
. . . . . . g.129155
TTCCACGAAGAGCACAGCAGAGTTCTGCAGCAACTCCAGGTTTTTACCTTCTTCCCGGAG c.3720
F H E E H S R V L Q Q L Q V F T F F P E p.1240
. . . . . . g.129215
TCTCTTCCAGCTACCAAGAAGCCATTTGAGAGGAAAACCATTGACCGCCAGTCTGCTCGA c.3780
S L P A T K K P F E R K T I D R Q S A R p.1260
. | 15 . . . . g.130752
AAGCCACTCCTGGGCCTG | CCAAGTTACATGCTACAGTCAGAAGAACTCCGGGCCTCCCTC c.3840
K P L L G L | P S Y M L Q S E E L R A S L p.1280
. . . . . . g.130812
CTGGCCAGGTATCCCCCTGAAAAACTCTTCCAGGCAGAACGGAACTTCAATGCTGCTCAA c.3900
L A R Y P P E K L F Q A E R N F N A A Q p.1300
. . . . . . g.130872
GACTTGGATGTCTCACTTTTGGAAGGTGACCTGGTGGGTGTGATTAAGAAAAAAGACCCC c.3960
D L D V S L L E G D L V G V I K K K D P p.1320
. . . | 16. . . g.134581
ATGGGCAGCCAGAACCGCTGGCTGATTGACAATGGAG | TCACCAAAGGCTTCGTGTACAGC c.4020
M G S Q N R W L I D N G V | T K G F V Y S p.1340
. . . . . . g.134641
TCTTTCCTAAAGCCCTACAATCCTCGCCGCAGCCACTCCGATGCCTCCGTGGGTAGCCAC c.4080
S F L K P Y N P R R S H S D A S V G S H p.1360
. . . . . . g.134701
TCCTCCACAGAGTCTGAGCACGGCAGCTCCTCCCCCAGGTTCCCACGCCAGAACAGCGGC c.4140
S S T E S E H G S S S P R F P R Q N S G p.1380
. . . . . . g.134761
AGCACCCTGACCTTCAACCCCAGCAGCATGGCTGTATCCTTTACCTCGGGGTCTTGCCAG c.4200
S T L T F N P S S M A V S F T S G S C Q p.1400
. . . . . . g.134821
AAGCAGCCTCAAGATGCATCTCCTCCGCCAAAAGAATGTGACCAAGGAACTCTCAGTGCA c.4260
K Q P Q D A S P P P K E C D Q G T L S A p.1420
. . . . . . g.134881
TCCCTAAATCCGAGTAATTCAGAGAGTAGTCCTTCCAGATGCCCTTCAGACCCAGACTCC c.4320
S L N P S N S E S S P S R C P S D P D S p.1440
. . . . . . g.134941
ACCTCCCAGCCAAGGTCAGGGGACTCTGCAGATGTAGCTAGAGATGTAAAGCAACCCACT c.4380
T S Q P R S G D S A D V A R D V K Q P T p.1460
. . . . . . g.135001
GCCACGCCGAGGAGCTACCGGAACTTCAGGCATCCAGAAATAGTTGGCTACTCCGTACCA c.4440
A T P R S Y R N F R H P E I V G Y S V P p.1480
. . . . . . g.135061
GGACGAAATGGGCAAAGTCAAGACCTCGTCAAAGGATGTGCAAGAACAGCCCAGGCTCCG c.4500
G R N G Q S Q D L V K G C A R T A Q A P p.1500
. . . . | 17 . g.137595
GAAGACAGAAGTACAGAGCCAGATGGCAGTGAGGCAGAAGGCAACCAG | GTCTATTTTGCT c.4560
E D R S T E P D G S E A E G N Q | V Y F A p.1520
. . . . . . g.137655
GTCTACACCTTCAAGGCACGAAACCCAAATGAGCTGAGCGTGTCAGCCAATCAGAAACTC c.4620
V Y T F K A R N P N E L S V S A N Q K L p.1540
. . . . . . g.137715
AAGATCCTCGAGTTTAAAGATGTTACAGGAAATACAGAGTGGTGGTTAGCTGAGGTTAAC c.4680
K I L E F K D V T G N T E W W L A E V N p.1560
. . . . . g.137769
GGGAAGAAGGGCTACGTTCCCTCCAATTATATCCGCAAAACCGAGTACACCTGA c.4734
G K K G Y V P S N Y I R K T E Y T X p.1577
. . . . . . g.137829
gcccacgttgcctgccacccagccttgctgcctttgctttcagtccgccgagggttctgg c.*60
. . . . . . g.137889
cggcccaccgagagggcgcctgctcctgagacacaggccctgtctgcgttgcttaaccat c.*120
. . . . . . g.137949
ggcatggtggagcacaccacagatcttgttctcctcgattgggttgtaaaccttgatgct c.*180
. . . . . . g.138009
cactagaatctctagaatttgaaatggaccctggggctttgcaaatgacttagtgactat c.*240
. . . . . . g.138069
gagaagagagacaagtcttagagctggcttttggaaaggagaaacttgcagtcagaagcc c.*300
. . . . . . g.138129
cagtgtcctatgtatgcaggaagctgtgctctagcaatagacagtgttggtaatggttgt c.*360
. . . . . . g.138189
gctgtacggcgtttggggtggccccatgttccatgctcagctgaccggatgccaactcag c.*420
. . . . . . g.138249
atgaaaagaattcatggctctgggcaccccgtgaggcagtgcttgcacatggctgggagt c.*480
. . . . . . g.138309
ttgtcgggattgaaccaaacctagtgcttcaaagctcctgggacacctccagtgtccagc c.*540
. . . . . . g.138369
acacattctcatacatactgcccctaatttctaaagtccctaaagcactacattctgtaa c.*600
. . . . . . g.138429
ccttgtttcttttactccattcccagattagttatgcaaaattcaactgcgttctacttt c.*660
. . . . . . g.138489
tagaagtgtttagggtctttattttctgttgacccttcatctgaaagattctcttccctt c.*720
. . . . . . g.138549
gttaggtacaatcactgcccccccgcttttttttttgagatggggtcttgctatgttgcc c.*780
. . . . . . g.138609
caggctggtcttaaacgcctgggctcaagcaaccctcccgcctccctgctgagattacag c.*840
. . . . . . g.138669
gtgtaagccaccataccgcaacctcaatgacacctttctgatggtctttacacagtctgt c.*900
. . . . . . g.138729
gatgtctggtggcccccctgccctggactcaataattgatagattttcctagagtaacag c.*960
. . . . . . g.138789
tatgagagctccagccattccattaaaagtattagttctgctttgagctgaaaccagttg c.*1020
. . . . . . g.138849
agcctaatggaagactggatgtctttcttcttcatccaagcaccctaatgactgtttagt c.*1080
. . . . . . g.138909
tacatccatagatgcagacaacataacacctgtgacttacttgaattgggataagccatt c.*1140
. . . . . . g.138969
ccagaagtagcttatcctagacttggaaataagatttttttcaccactaacttccatgct c.*1200
. . . . . . g.139029
tcagagatgacattcaaagccagattcccaagtgcctgatcatacctcccagtctcagga c.*1260
. . . . . . g.139089
agatatttgcttaccccttagaccaagaatcttaagatcttccccagctatgaagcctat c.*1320
. . . . . . g.139149
cttggaatgggaaaccatgaaatttgtcttttaaaagaaagggaagaaatagccttacag c.*1380
. . . . . . g.139209
cccctgttcctccaagtgcacatttagccttaaaatcctgggagtcgggagacaccgtgg c.*1440
. . . . . . g.139269
agtcctaacatccacagtgtctgctggtcgtggtcagaaggcagtaatgcaagagtcctt c.*1500
. . . . . . g.139329
ttgtgaagagtgtttctatgtagagatgtttatatttaagtagttcttttataaataaaa c.*1560
. g.139343
gcatttctaatggc c.*1574
(downstream sequence)
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