(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the DNMT3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering DNMT3B transcript NM_006892.3.
(upstream sequence)
. . g.1021
acccactcccgctgccccgtc c.-301
. . . . . . g.1081
cggcccgcgccgcttcctcgcagcagctgctcccggctccgcggccgcagcccgcgtgga c.-241
. . . . . . g.1141
cgctccgagcgccccccgacggacgggaccggctccctggcggtcgggcgagcgggcggc c.-181
. . . . . . g.1201
aacgctgcccggccggcagcgctggggttaagtggcccaagtaaacctagctcggcgatc c.-121
. . . . . . g.1261
ggcgccggagattcgcgagcccagcgccctgcacggccgccagccggcctcccgccagcc c.-61
. . . . . . | 02 g.18939
agccccgacccgcggctccgccgcccagccgcgccccagccagccctgcggcag | gaaagc c.-1
. . . . . . g.18999
ATGAAGGGAGACACCAGGCATCTCAATGGAGAGGAGGACGCCGGCGGGAGGGAAGACTCG c.60
M K G D T R H L N G E E D A G G R E D S p.20
. . . . . . g.19059
ATCCTCGTCAACGGGGCCTGCAGCGACCAGTCCTCCGACTCGCCCCCAATCCTGGAGGCT c.120
I L V N G A C S D Q S S D S P P I L E A p.40
. . | 03 . . . . g.20006
ATCCGCACCCCGGAGATCAGAG | GCCGAAGATCAAGCTCGCGACTCTCCAAGAGGGAGGTG c.180
I R T P E I R G | R R S S S R L S K R E V p.60
. . | 04 . . . . g.23409
TCCAGTCTGCTAAGCTACACACAG | GACTTGACAGGCGATGGCGACGGGGAAGATGGGGAT c.240
S S L L S Y T Q | D L T G D G D G E D G D p.80
. . . . . . g.23469
GGCTCTGACACCCCAGTCATGCCAAAGCTCTTCCGGGAAACCAGGACTCGTTCAGAAAGC c.300
G S D T P V M P K L F R E T R T R S E S p.100
| 05 . . . . . . g.25171
CCAGCT | GTCCGAACTCGAAATAACAACAGTGTCTCCAGCCGGGAGAGGCACAGGCCTTCC c.360
P A | V R T R N N N S V S S R E R H R P S p.120
. . . . . . g.25231
CCACGTTCCACCCGAGGCCGGCAGGGCCGCAACCATGTGGACGAGTCCCCCGTGGAGTTC c.420
P R S T R G R Q G R N H V D E S P V E F p.140
. | 06 . . . . . g.25893
CCGGCTACCAGG | TCCCTGAGACGGCGGGCAACAGCATCGGCAGGAACGCCATGGCCGTCC c.480
P A T R | S L R R R A T A S A G T P W P S p.160
. . . . . . g.25953
CCTCCCAGCTCTTACCTTACCATCGACCTCACAGACGACACAGAGGACACACATGGGACG c.540
P P S S Y L T I D L T D D T E D T H G T p.180
. . . . . . g.26013
CCCCAGAGCAGCAGTACCCCCTACGCCCGCCTAGCCCAGGACAGCCAGCAGGGGGGCATG c.600
P Q S S S T P Y A R L A Q D S Q Q G G M p.200
. . . . . | 07 . g.27475
GAGTCCCCGCAGGTGGAGGCAGACAGTGGAGATGGAGACAGTTCAGAGTATCAG | GATGGG c.660
E S P Q V E A D S G D G D S S E Y Q | D G p.220
. . . . . . g.27535
AAGGAGTTTGGAATAGGGGACCTCGTGTGGGGAAAGATCAAGGGCTTCTCCTGGTGGCCC c.720
K E F G I G D L V W G K I K G F S W W P p.240
. . . . . . g.27595
GCCATGGTGGTGTCTTGGAAGGCCACCTCCAAGCGACAGGCTATGTCTGGCATGCGGTGG c.780
A M V V S W K A T S K R Q A M S G M R W p.260
. . . | 08 . . . g.30243
GTCCAGTGGTTTGGCGATGGCAAGTTCTCCGAG | GTCTCTGCAGACAAACTGGTGGCACTG c.840
V Q W F G D G K F S E | V S A D K L V A L p.280
. . . . . . g.30303
GGGCTGTTCAGCCAGCACTTTAATTTGGCCACCTTCAATAAGCTCGTCTCCTATCGAAAA c.900
G L F S Q H F N L A T F N K L V S Y R K p.300
. . | 09 . . . . g.31280
GCCATGTACCATGCTCTGGAG | AAAGCTAGGGTGCGAGCTGGCAAGACCTTCCCCAGCAGC c.960
A M Y H A L E | K A R V R A G K T F P S S p.320
. . . . . . g.31340
CCTGGAGACTCATTGGAGGACCAGCTGAAGCCCATGTTGGAGTGGGCCCACGGGGGCTTC c.1020
P G D S L E D Q L K P M L E W A H G G F p.340
. . . . | 10 . . g.32165
AAGCCCACTGGGATCGAGGGCCTCAAACCCAACAACACGCAACCAG | TGGTTAATAAGTCG c.1080
K P T G I E G L K P N N T Q P V | V N K S p.360
. . . . | 11 . . g.34038
AAGGTGCGTCGTGCAGGCAGTAGGAAATTAGAATCAAGGAAATACG | AGAACAAGACTCGA c.1140
K V R R A G S R K L E S R K Y E | N K T R p.380
. . . . . . g.34098
AGACGCACAGCTGACGACTCAGCCACCTCTGACTACTGCCCCGCACCCAAGCGCCTCAAG c.1200
R R T A D D S A T S D Y C P A P K R L K p.400
. . . . . | 12 . g.34273
ACAAATTGCTATAACAACGGCAAAGACCGAGGGGATGAAGATCAGAGCCGAG | AACAAATG c.1260
T N C Y N N G K D R G D E D Q S R E | Q M p.420
. . . | 13. . . g.35428
GCTTCAGATGTTGCCAACAACAAGAGCAGCCTGGAAG | ATGGCTGTTTGTCTTGTGGCAGG c.1320
A S D V A N N K S S L E D | G C L S C G R p.440
. . . . . | 14. g.35805
AAAAACCCCGTGTCCTTCCACCCTCTCTTTGAGGGGGGGCTCTGTCAGACATGCCGG | GAT c.1380
K N P V S F H P L F E G G L C Q T C R | D p.460
. . . . . . g.35865
CGCTTCCTTGAGCTGTTTTACATGTATGATGACGATGGCTATCAGTCTTACTGCACTGTG c.1440
R F L E L F Y M Y D D D G Y Q S Y C T V p.480
. . . . . | 15 . g.37085
TGCTGCGAGGGCCGAGAGCTGCTGCTTTGCAGCAACACGAGCTGCTGCCG | GTGTTTCTGT c.1500
C C E G R E L L L C S N T S C C R | C F C p.500
. . . . . . g.37145
GTGGAGTGCCTGGAGGTGCTGGTGGGCACAGGCACAGCGGCCGAGGCCAAGCTTCAGGAG c.1560
V E C L E V L V G T G T A A E A K L Q E p.520
. . . . . . g.37205
CCCTGGAGCTGTTACATGTGTCTCCCGCAGCGCTGTCATGGCGTCCTGCGGCGCCGGAAG c.1620
P W S C Y M C L P Q R C H G V L R R R K p.540
. . . . . | 16 . g.37865
GACTGGAACGTGCGCCTGCAGGCCTTCTTCACCAGTGACACGGGGCTTGAATAT | GAAGCC c.1680
D W N V R L Q A F F T S D T G L E Y | E A p.560
. . . . . . g.37925
CCCAAGCTGTACCCTGCCATTCCCGCAGCCCGAAGGCGGCCCATTCGAGTCCTGTCATTG c.1740
P K L Y P A I P A A R R R P I R V L S L p.580
. | 17 . . . . g.38809
TTTGATGGCATCGCGACAG | GCTACCTAGTCCTCAAAGAGTTGGGCATAAAGGTAGGAAAG c.1800
F D G I A T G | Y L V L K E L G I K V G K p.600
. . . . . . g.38869
TACGTCGCTTCTGAAGTGTGTGAGGAGTCCATTGCTGTTGGAACCGTGAAGCACGAGGGG c.1860
Y V A S E V C E E S I A V G T V K H E G p.620
. . . . | 18 . . g.39465
AATATCAAATACGTGAACGACGTGAGGAACATCACAAAGAAAAAT | ATTGAAGAATGGGGC c.1920
N I K Y V N D V R N I T K K N | I E E W G p.640
. . . . . . g.39525
CCATTTGACTTGGTGATTGGCGGAAGCCCATGCAACGATCTCTCAAATGTGAATCCAGCC c.1980
P F D L V I G G S P C N D L S N V N P A p.660
. | 19 . . . . . g.39937
AGGAAAGGCCTGTATG | AGGGTACAGGCCGGCTCTTCTTCGAATTTTACCACCTGCTGAAT c.2040
R K G L Y E | G T G R L F F E F Y H L L N p.680
. . . . . . g.39997
TACTCACGCCCCAAGGAGGGTGATGACCGGCCGTTCTTCTGGATGTTTGAGAATGTTGTA c.2100
Y S R P K E G D D R P F F W M F E N V V p.700
. . . . | 20 . . g.41015
GCCATGAAGGTTGGCGACAAGAGGGACATCTCACGGTTCCTGGAG | TGTAATCCAGTGATG c.2160
A M K V G D K R D I S R F L E | C N P V M p.720
. . . . . . g.41075
ATTGATGCCATCAAAGTTTCTGCTGCTCACAGGGCCCGATACTTCTGGGGCAACCTACCC c.2220
I D A I K V S A A H R A R Y F W G N L P p.740
. | 21 . . . . . g.44002
GGGATGAACAG | GCCCGTGATAGCATCAAAGAATGATAAACTCGAGCTGCAGGACTGCTTG c.2280
G M N R | P V I A S K N D K L E L Q D C L p.760
. . | 22 . . . . g.44863
GAATACAATAGGATAGCCAAG | TTAAAGAAAGTACAGACAATAACCACCAAGTCGAACTCG c.2340
E Y N R I A K | L K K V Q T I T T K S N S p.780
. . . . . . g.44923
ATCAAACAGGGGAAAAACCAACTTTTCCCTGTTGTCATGAATGGCAAAGAAGATGTTTTG c.2400
I K Q G K N Q L F P V V M N G K E D V L p.800
. . | 23 . . . . g.46417
TGGTGCACTGAGCTCGAAAG | GATCTTTGGCTTTCCTGTGCACTACACAGACGTGTCCAAC c.2460
W C T E L E R | I F G F P V H Y T D V S N p.820
. . . . . . g.46477
ATGGGCCGTGGTGCCCGCCAGAAGCTGCTGGGAAGGTCCTGGAGCGTGCCTGTCATCCGA c.2520
M G R G A R Q K L L G R S W S V P V I R p.840
. . . . g.46519
CACCTCTTCGCCCCTCTGAAGGACTACTTTGCATGTGAATAG c.2562
H L F A P L K D Y F A C E X p.853
. . . . . . g.46579
ttccagccaggccccaagcccactggggtgtgtggcagagccaggacccaggaggtgtga c.*60
. . . . . . g.46639
ttcctgaaggcatccccaggccctgctcttcctcagctgtgtgggtcataccgtgtacct c.*120
. . . . . . g.46699
cagttccctcttgctcagtgggggcagagccacctgactcttgcaggggtagcctgaggt c.*180
. . . . . . g.46759
gccgcctccttgtgcacaaatcagacctggctgcttggagcagcctaacacggtgctcat c.*240
. . . . . . g.46819
tttttcttctcctaaaactttaaaacttgaagtaggtagcaacgtggctttttttttttc c.*300
. . . . . . g.46879
ccttcctgggtctaccactcagagaaacaatggctaagataccaaaaccacagtgccgac c.*360
. . . . . . g.46939
agctctccaatactcaggttaatgctgaaaaatcatccaagacagttattgcaagagttt c.*420
. . . . . . g.46999
aatttttgaaaactggctactgctctgtgtttacagacgtgtgcagttgtaggcatgtag c.*480
. . . . . . g.47059
ctacaggacatttttaagggcccaggatcgttttttcccagggcaagcagaagagaaaat c.*540
. . . . . . g.47119
gttgtatatgtcttttacccggcacattccccttgcctaaatacaagggctggagtctgc c.*600
. . . . . . g.47179
acgggacctattagagtattttccacaatgatgatgatttcagcagggatgacgtcatca c.*660
. . . . . . g.47239
tcacattcagggctattttttcccccacaaacccaagggcaggggccactcttagctaaa c.*720
. . . . . . g.47299
tccctccccgtgactgcaatagaaccctctggggagctcaggaaggggtgtgctgagttc c.*780
. . . . . . g.47359
tataatataagctgccatatattttgtagacaagtatggctcctccatatctccctcttc c.*840
. . . . . . g.47419
cctaggagaggagtgtgaagcaaggagcttagataagacaccccctcaaacccattccct c.*900
. . . . . . g.47479
ctccaggagacctaccctccacaggcacaggtccccagatgagaagtctgctaccctcat c.*960
. . . . . . g.47539
ttctcatctttttactaaactcagaggcagtgacagcagtcagggacagacatacatttc c.*1020
. . . . . . g.47599
tcataccttccccacatctgagagatgacagggaaaactgcaaagctcggtgctcccttt c.*1080
. . . . . . g.47659
ggagattttttaatccttttttattccataagaagtcgtttttagggagaacgggaattc c.*1140
. . . . . . g.47719
agacaagctgcatttcagaaatgctgtcataatggtttttaacaccttttactcttctta c.*1200
. . . . . . g.47779
ctggtgctattttgtagaataaggaacaacgttgacaagttttgtggggctttttataca c.*1260
. . . . . . g.47839
ctttttaaaatctcaaacttctatttttatgtttaacgttttcattaaaattttttttgt c.*1320
. . . . . . g.47899
aactggagccacgacgtaacaaatatggggaaaaaactgtgccttgtttcaacagttttt c.*1380
. . . . . . g.47959
gctaatttttaggctgaaagatgacggatgcctagagtttaccttatgtttaattaaaat c.*1440
. g.47972
cagtatttgtcta c.*1453
(downstream sequence)
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