(used for variant description)
(last modified March 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_022552.4 in the DNMT3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029465.1, covering DNMT3A transcript NM_022552.4.
(upstream sequence)
. . g.5702
cggcggcggcgagagcagaggacgagc c.-241
. . . . . . g.5762
cgggacgcggcgccgcggcaccagggcgcgcagccgggccggcccgaccccaccggccat c.-181
. | 02 . . . . . g.33486
acg | gtggagccatcgaagcccccacccacaggctgacagaggcaccgttcaccagagggc c.-121
. . . . . . g.33546
tcaacaccgggatctatgtttaagttttaactctcgcctccaaagaccacgataattcct c.-61
. . . . . . g.33606
tccccaaagcccagcagccccccagccccgcgcagccccagcctgcctcccggcgcccag c.-1
. . . . . . g.33666
ATGCCCGCCATGCCCTCCAGCGGCCCCGGGGACACCAGCAGCTCTGCTGCGGAGCGGGAG c.60
M P A M P S S G P G D T S S S A A E R E p.20
. | 03 . . . . . g.47395
GAGGACCGAAAG | GACGGAGAGGAGCAGGAGGAGCCGCGTGGCAAGGAGGAGCGCCAAGAG c.120
E D R K | D G E E Q E E P R G K E E R Q E p.40
. . . . . | 04. g.64882
CCCAGCACCACGGCACGGAAGGTGGGGCGGCCTGGGAGGAAGCGCAAGCACCCCCCG | GTG c.180
P S T T A R K V G R P G R K R K H P P | V p.60
. . . . . . g.64942
GAAAGCGGTGACACGCCAAAGGACCCTGCGGTGATCTCCAAGTCCCCATCCATGGCCCAG c.240
E S G D T P K D P A V I S K S P S M A Q p.80
. . . . . . g.65002
GACTCAGGCGCCTCAGAGCTATTACCCAATGGGGACTTGGAGAAGCGGAGTGAGCCCCAG c.300
D S G A S E L L P N G D L E K R S E P Q p.100
. . . . . . g.65062
CCAGAGGAGGGGAGCCCTGCTGGGGGGCAGAAGGGCGGGGCCCCAGCAGAGGGAGAGGGT c.360
P E E G S P A G G Q K G G A P A E G E G p.120
. . . . . . g.65122
GCAGCTGAGACCCTGCCTGAAGCCTCAAGAGCAGTGGAAAATGGCTGCTGCACCCCCAAG c.420
A A E T L P E A S R A V E N G C C T P K p.140
. . | 05 . . . g.72079
GAGGGCCGAGGAGCCCCTGCAGAAGCGG | GCAAAGAACAGAAGGAGACCAACATCGAATCC c.480
E G R G A P A E A G | K E Q K E T N I E S p.160
. | 06 . . . . . g.72551
ATGAAAATGGAG | GGCTCCCGGGGCCGGCTGCGGGGTGGCTTGGGCTGGGAGTCCAGCCTC c.540
M K M E | G S R G R L R G G L G W E S S L p.180
. . . . . . g.72611
CGTCAGCGGCCCATGCCGAGGCTCACCTTCCAGGCGGGGGACCCCTACTACATCAGCAAG c.600
R Q R P M P R L T F Q A G D P Y Y I S K p.200
. . . | 07 . . g.99359
CGCAAGCGGGACGAGTGGCTGGCACGCTGGAAAAGGGAG | GCTGAGAAGAAAGCCAAGGTC c.660
R K R D E W L A R W K R E | A E K K A K V p.220
. . . . . . g.99419
ATTGCAGGAATGAATGCTGTGGAAGAAAACCAGGGGCCCGGGGAGTCTCAGAAGGTGGAG c.720
I A G M N A V E E N Q G P G E S Q K V E p.240
. . . . . . g.99479
GAGGCCAGCCCTCCTGCTGTGCAGCAGCCCACTGACCCCGCATCCCCCACTGTGGCTACC c.780
E A S P P A V Q Q P T D P A S P T V A T p.260
. . . . . . g.99539
ACGCCTGAGCCCGTGGGGTCCGATGCTGGGGACAAGAATGCCACCAAAGCAGGCGATGAC c.840
T P E P V G S D A G D K N A T K A G D D p.280
. | 08 . . . . . g.99886
GAGCCAGAGTACGAG | GACGGCCGGGGCTTTGGCATTGGGGAGCTGGTGTGGGGGAAACTG c.900
E P E Y E | D G R G F G I G E L V W G K L p.300
. . . . . . g.99946
CGGGGCTTCTCCTGGTGGCCAGGCCGCATTGTGTCTTGGTGGATGACGGGCCGGAGCCGA c.960
R G F S W W P G R I V S W W M T G R S R p.320
. . . . . | 09 . g.100438
GCAGCTGAAGGCACCCGCTGGGTCATGTGGTTCGGAGACGGCAAATTCTCAGTG | GTGTGT c.1020
A A E G T R W V M W F G D G K F S V | V C p.340
. . . . . . g.100498
GTTGAGAAGCTGATGCCGCTGAGCTCGTTTTGCAGTGCGTTCCACCAGGCCACGTACAAC c.1080
V E K L M P L S S F C S A F H Q A T Y N p.360
. . . . | 10 . . g.100832
AAGCAGCCCATGTACCGCAAAGCCATCTACGAGGTCCTGCAG | GTGGCCAGCAGCCGCGCG c.1140
K Q P M Y R K A I Y E V L Q | V A S S R A p.380
. . . . . . g.100892
GGGAAGCTGTTCCCGGTGTGCCACGACAGCGATGAGAGTGACACTGCCAAGGCCGTGGAG c.1200
G K L F P V C H D S D E S D T A K A V E p.400
. . . . . . g.100952
GTGCAGAACAAGCCCATGATTGAATGGGCCCTGGGGGGCTTCCAGCCTTCTGGCCCTAAG c.1260
V Q N K P M I E W A L G G F Q P S G P K p.420
. | 11 . . . . g.101322
GGCCTGGAGCCACCAGAAG | AAGAGAAGAATCCCTACAAAGAAGTGTACACGGACATGTGG c.1320
G L E P P E E | E K N P Y K E V Y T D M W p.440
. . . . . . g.101382
GTGGAACCTGAGGCAGCTGCCTACGCACCACCTCCACCAGCCAAAAAGCCCCGGAAGAGC c.1380
V E P E A A A Y A P P P P A K K P R K S p.460
. . . . | 12 . g.101537
ACAGCGGAGAAGCCCAAGGTCAAGGAGATTATTGATGAGCGCACAAGAG | AGCGGCTGGTG c.1440
T A E K P K V K E I I D E R T R E | R L V p.480
. . . | 13 . . . g.102284
TACGAGGTGCGGCAGAAGTGCCGGAACATTGAGG | ACATCTGCATCTCCTGTGGGAGCCTC c.1500
Y E V R Q K C R N I E D | I C I S C G S L p.500
. . . . . | 14 . g.102944
AATGTTACCCTGGAACACCCCCTCTTCGTTGGAGGAATGTGCCAAAACTGCAAG | AACTGC c.1560
N V T L E H P L F V G G M C Q N C K | N C p.520
. . . . . . g.103004
TTTCTGGAGTGTGCGTACCAGTACGACGACGACGGCTACCAGTCCTACTGCACCATCTGC c.1620
F L E C A Y Q Y D D D G Y Q S Y C T I C p.540
. . . . | 15. . g.103265
TGTGGGGGCCGTGAGGTGCTCATGTGCGGAAACAACAACTGCTGCAG | GTGCTTTTGCGTG c.1680
C G G R E V L M C G N N N C C R | C F C V p.560
. . . . . . g.103325
GAGTGTGTGGACCTCTTGGTGGGGCCGGGGGCTGCCCAGGCAGCCATTAAGGAAGACCCC c.1740
E C V D L L V G P G A A Q A A I K E D P p.580
. . . . . . g.103385
TGGAACTGCTACATGTGCGGGCACAAGGGTACCTACGGGCTGCTGCGGCGGCGAGAGGAC c.1800
W N C Y M C G H K G T Y G L L R R R E D p.600
. . . . . | 16 . g.103617
TGGCCCTCCCGGCTCCAGATGTTCTTCGCTAATAACCACGACCAGGAATTT | GACCCTCCA c.1860
W P S R L Q M F F A N N H D Q E F | D P P p.620
. . . . . . g.103677
AAGGTTTACCCACCTGTCCCAGCTGAGAAGAGGAAGCCCATCCGGGTGCTGTCTCTCTTT c.1920
K V Y P P V P A E K R K P I R V L S L F p.640
. | 17 . . . . . g.105927
GATGGAATCGCTACAG | GGCTCCTGGTGCTGAAGGACTTGGGCATTCAGGTGGACCGCTAC c.1980
D G I A T G | L L V L K D L G I Q V D R Y p.660
. . . . . . g.105987
ATTGCCTCGGAGGTGTGTGAGGACTCCATCACGGTGGGCATGGTGCGGCACCAGGGGAAG c.2040
I A S E V C E D S I T V G M V R H Q G K p.680
. . . . | 18 . . g.106878
ATCATGTACGTCGGGGACGTCCGCAGCGTCACACAGAAGCAT | ATCCAGGAGTGGGGCCCA c.2100
I M Y V G D V R S V T Q K H | I Q E W G P p.700
. . . . . . g.106938
TTCGATCTGGTGATTGGGGGCAGTCCCTGCAATGACCTCTCCATCGTCAACCCTGCTCGC c.2160
F D L V I G G S P C N D L S I V N P A R p.720
. | 19 . . . . . g.107187
AAGGGCCTCTACG | AGGGCACTGGCCGGCTCTTCTTTGAGTTCTACCGCCTCCTGCATGAT c.2220
K G L Y E | G T G R L F F E F Y R L L H D p.740
. . . . . . g.107247
GCGCGGCCCAAGGAGGGAGATGATCGCCCCTTCTTCTGGCTCTTTGAGAATGTGGTGGCC c.2280
A R P K E G D D R P F F W L F E N V V A p.760
. . . . | 20 . . g.108393
ATGGGCGTTAGTGACAAGAGGGACATCTCGCGATTTCTCGAG | TCCAACCCTGTGATGATT c.2340
M G V S D K R D I S R F L E | S N P V M I p.780
. . . . . . g.108453
GATGCCAAAGAAGTGTCAGCTGCACACAGGGCCCGCTACTTCTGGGGTAACCTTCCCGGT c.2400
D A K E V S A A H R A R Y F W G N L P G p.800
| 21 . . . . . g.110637
ATGAACAG | GCCGTTGGCATCCACTGTGAATGATAAGCTGGAGCTGCAGGAGTGTCTGGAG c.2460
M N R | P L A S T V N D K L E L Q E C L E p.820
. | 22 . . . . g.111807
CATGGCAGGATAGCCAAG | TTCAGCAAAGTGAGGACCATTACTACGAGGTCAAACTCCATA c.2520
H G R I A K | F S K V R T I T T R S N S I p.840
. . . . . . g.111867
AAGCAGGGCAAAGACCAGCATTTTCCTGTCTTCATGAATGAGAAAGAGGACATCTTATGG c.2580
K Q G K D Q H F P V F M N E K E D I L W p.860
. | 23. . . . . g.113213
TGCACTGAAATGGAAAG | GGTATTTGGTTTCCCAGTCCACTATACTGACGTCTCCAACATG c.2640
C T E M E R | V F G F P V H Y T D V S N M p.880
. . . . . . g.113273
AGCCGCTTGGCGAGGCAGAGACTGCTGGGCCGGTCATGGAGCGTGCCAGTCATCCGCCAC c.2700
S R L A R Q R L L G R S W S V P V I R H p.900
. . . g.113312
CTCTTCGCTCCGCTGAAGGAGTATTTTGCGTGTGTGTAA c.2739
L F A P L K E Y F A C V X p.912
. . . . . . g.113372
gggacatgggggcaaactgaggtagcgacacaaagttaaacaaacaaacaaaaaacacaa c.*60
. . . . . . g.113432
aacataataaaacaccaagaacatgaggatggagagaagtatcagcacccagaagagaaa c.*120
. . . . . . g.113492
aaggaatttaaaacaaaaaccacagaggcggaaataccggagggctttgccttgcgaaaa c.*180
. . . . . . g.113552
gggttggacatcatctcctgatttttcaatgttattcttcagtcctatttaaaaacaaaa c.*240
. . . . . . g.113612
ccaagctcccttcccttcctcccccttcccttttttttcggtcagaccttttattttcta c.*300
. . . . . . g.113672
ctcttttcagaggggttttctgtttgtttgggttttgtttcttgctgtgactgaaacaag c.*360
. . . . . . g.113732
aaggttattgcagcaaaaatcagtaacaaaaaatagtaacaataccttgcagaggaaagg c.*420
. . . . . . g.113792
tgggagagaggaaaaaaggaaattctatagaaatctatatattgggttgttttttttttt c.*480
. . . . . . g.113852
gttttttgttttttttttttgggtttttttttttactatatatcttttttttgttgtctc c.*540
. . . . . . g.113912
tagcctgatcagataggagcacaagcaggggacggaaagagagagacactcaggcggcag c.*600
. . . . . . g.113972
cattccctcccagccactgagctgtcgtgccagcaccattcctggtcacgcaaaacagaa c.*660
. . . . . . g.114032
cccagttagcagcagggagacgagaacaccacacaagacatttttctacagtatttcagg c.*720
. . . . . . g.114092
tgcctaccacacaggaaaccttgaagaaaatcagtttctagaagccgctgttacctcttg c.*780
. . . . . . g.114152
tttacagtttatatatatatgatagatatgagatatatatataaaaggtactgttaacta c.*840
. . . . . . g.114212
ctgtacaacccgacttcataatggtgctttcaaacagcgagatgagtaaaaacatcagct c.*900
. . . . . . g.114272
tccacgttgccttctgcgcaaagggtttcaccaaggatggagaaagggagacagcttgca c.*960
. . . . . . g.114332
gatggcgcgttctcacggtgggctcttccccttggtttgtaacgaagtgaaggaggagaa c.*1020
. . . . . . g.114392
cttgggagccaggttctccctgccaaaaagggggctagatgaggtggtcgggcccgtgga c.*1080
. . . . . . g.114452
cagctgagagtgggattcatccagactcatgcaataaccctttgattgttttctaaaagg c.*1140
. . . . . . g.114512
agactccctcggcaagatggcagagggtacggagtcttcaggcccagtttctcactttag c.*1200
. . . . . . g.114572
ccaattcgagggctccttgtggtgggatcagaactaatccagagtgtgggaaagtgacag c.*1260
. . . . . g.114630
tcaaaaccccacctggagcaaataaaaaaacatacaaaacgtactggtgctttcctgt c.*1318
(downstream sequence)
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