(used for variant description)
(last modified October 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_145331.2 in the MAP3K7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011966.2, covering MAP3K7 transcript NM_145331.2.
(upstream sequence)
. . . . . g.4945
gtcctctctcgcggtatcatccggttgctgaggccctgtaataaaggtctcgcgaaat c.-361
. . . . . . g.5005
ttgttctagaggtccaagtttgcttcttagcttactccaccccacccccaacctgtccct c.-301
. . . . . . g.5065
ccttttctttccaagtcacaaaattctcccctcccctaccccggagtttacggccctcct c.-241
. . . . . . g.5125
cctgtttccgatttcagcccggaaccggaagtgtagtgggcggggcccgtcggcggaaaa c.-181
. . . . . . g.5185
cgcagcggagccagagccggacacggctgtggccgctgcctctacccccgccacggatcg c.-121
. . . . . . g.5245
ccgggtagtaggactgcgcggctccaggctgagggtcggtccggaggcgggtgggcgcgg c.-61
. . . . . . g.5305
gtctcacccggattgtccgggtggcaccgttcccggccccaccgggcgccgcgagggatc c.-1
. . . . . . g.5365
ATGTCTACAGCCTCTGCCGCCTCCTCCTCCTCCTCGTCTTCGGCCGGTGAGATGATCGAA c.60
M S T A S A A S S S S S S S A G E M I E p.20
. . . . . . g.5425
GCCCCTTCCCAGGTCCTCAACTTTGAAGAGATCGACTACAAGGAGATCGAGGTGGAAGAG c.120
A P S Q V L N F E E I D Y K E I E V E E p.40
| 02 . . . . . . g.20441
| GTTGTTGGAAGAGGAGCCTTTGGAGTTGTTTGCAAAGCTAAGTGGAGAGCAAAAGATGTT c.180
| V V G R G A F G V V C K A K W R A K D V p.60
. . . . . | 03 . g.23574
GCTATTAAACAAATAGAAAGTGAATCTGAGAGGAAAGCGTTTATTGTAGAG | CTTCGGCAG c.240
A I K Q I E S E S E R K A F I V E | L R Q p.80
. . . . . | 04. g.30524
TTATCCCGTGTGAACCATCCTAATATTGTAAAGCTTTATGGAGCCTGCTTGAATCCA | GTG c.300
L S R V N H P N I V K L Y G A C L N P | V p.100
. . . . | 05 . . g.31991
TGTCTTGTGATGGAATATGCTGAAGGGGGCTCTTTATATAATG | TGCTGCATGGTGCTGAA c.360
C L V M E Y A E G G S L Y N V | L H G A E p.120
. . . . . . g.32051
CCATTGCCATATTATACTGCTGCCCACGCAATGAGTTGGTGTTTACAGTGTTCCCAAGGA c.420
P L P Y Y T A A H A M S W C L Q C S Q G p.140
. . . . . . g.32111
GTGGCTTATCTTCACAGCATGCAACCCAAAGCGCTAATTCACAGGGACCTGAAACCACCA c.480
V A Y L H S M Q P K A L I H R D L K P P p.160
| 06 . . . . . . g.35622
AA | CTTACTGCTGGTTGCAGGGGGGACAGTTCTAAAAATTTGTGATTTTGGTACAGCCTGT c.540
N | L L L V A G G T V L K I C D F G T A C p.180
. . . . . . g.35682
GACATTCAGACACACATGACCAATAACAAGGGGAGTGCTGCTTGGATGGCACCTGAAGTT c.600
D I Q T H M T N N K G S A A W M A P E V p.200
| 07. . . . . . g.38655
TTTGAAG | GTAGTAATTACAGTGAAAAATGTGACGTCTTCAGCTGGGGTATTATTCTTTGG c.660
F E G | S N Y S E K C D V F S W G I I L W p.220
. . . . . . g.38715
GAAGTGATAACGCGTCGGAAACCCTTTGATGAGATTGGTGGCCCAGCTTTCCGAATCATG c.720
E V I T R R K P F D E I G G P A F R I M p.240
. | 08 . . . . . g.40053
TGGGCTGTTCATAATG | GTACTCGACCACCACTGATAAAAAATTTACCTAAGCCCATTGAG c.780
W A V H N G | T R P P L I K N L P K P I E p.260
. . . . . . g.40113
AGCCTGATGACTCGTTGTTGGTCTAAAGATCCTTCCCAGCGCCCTTCAATGGAGGAAATT c.840
S L M T R C W S K D P S Q R P S M E E I p.280
. . | 09. . . . g.41672
GTGAAAATAATGACTCACTTGATGCGG | TACTTTCCAGGAGCAGATGAGCCATTACAGTAT c.900
V K I M T H L M R | Y F P G A D E P L Q Y p.300
. . . . | 10 . g.44022
CCTTGTCAGTATTCAGATGAAGGACAGAGCAACTCTGCCACCAGTACAG | GCTCATTCATG c.960
P C Q Y S D E G Q S N S A T S T G | S F M p.320
. . . . . . g.44082
GACATTGCTTCTACAAATACGAGTAACAAAAGTGACACTAATATGGAGCAAGTTCCTGCC c.1020
D I A S T N T S N K S D T N M E Q V P A p.340
. . . . . . g.44142
ACAAATGATACTATTAAGCGCTTAGAATCAAAATTGTTGAAAAATCAGGCAAAGCAACAG c.1080
T N D T I K R L E S K L L K N Q A K Q Q p.360
| 11 . . . . . . g.44861
| AGTGAATCTGGACGTTTAAGCTTGGGAGCCTCCCGTGGGAGCAGTGTGGAGAGCTTGCCC c.1140
| S E S G R L S L G A S R G S S V E S L P p.380
. . . . . . g.44921
CCAACCTCTGAGGGCAAGAGGATGAGTGCTGACATGTCTGAAATAGAAGCTAGGATCGCC c.1200
P T S E G K R M S A D M S E I E A R I A p.400
. | 12 . . . . . g.47606
GCAACCACAG | CCTATTCCAAGCCTAAACGGGGCCACCGTAAAACTGCTTCATTTGGCAAC c.1260
A T T A | Y S K P K R G H R K T A S F G N p.420
. . . | 13 . . . g.55816
ATTCTGGATGTCCCTGAGATCGTCATATCAG | GCAACGGACAGCCAAGACGTAGATCCATC c.1320
I L D V P E I V I S G | N G Q P R R R S I p.440
. . . | 14 . . . g.68429
CAAGACTTGACTGTAACTGGAACAGAACCTGGTCAG | GTGAGCAGTAGGTCATCCAGTCCC c.1380
Q D L T V T G T E P G Q | V S S R S S S P p.460
. . . . . . g.68489
AGTGTCAGAATGATTACTACCTCAGGACCAACCTCAGAAAAGCCAACTCGAAGTCATCCA c.1440
S V R M I T T S G P T S E K P T R S H P p.480
. . | 15 . . . . g.72907
TGGACCCCTGATGATTCCACAG | ATACCAATGGATCAGATAACTCCATCCCAATGGCTTAT c.1500
W T P D D S T D | T N G S D N S I P M A Y p.500
. . | 16 . . . . g.73662
CTTACACTGGATCACCAACTACAG | CCTCTAGCACCGTGCCCAAACTCCAAAGAATCTATG c.1560
L T L D H Q L Q | P L A P C P N S K E S M p.520
. . . . . . g.73722
GCAGTGTTTGAACAGCATTGTAAAATGGCACAAGAATATATGAAAGTTCAAACAGAAATT c.1620
A V F E Q H C K M A Q E Y M K V Q T E I p.540
. . | 17 . . . . g.75547
GCATTGTTATTACAGAGAAA | GCAAGAACTAGTTGCAGAACTGGACCAGGATGAAAAGGAC c.1680
A L L L Q R K | Q E L V A E L D Q D E K D p.560
. . . . . . g.75607
CAGCAAAATACATCTCGCCTGGTACAGGAACATAAAAAGCTTTTAGATGAAAACAAAAGC c.1740
Q Q N T S R L V Q E H K K L L D E N K S p.580
. . . . . . g.75667
CTTTCTACTTACTACCAGCAATGCAAAAAACAACTAGAGGTCATCAGAAGTCAGCAGCAG c.1800
L S T Y Y Q Q C K K Q L E V I R S Q Q Q p.600
. . g.75688
AAACGACAAGGCACTTCATGA c.1821
K R Q G T S X p.606
. . . . . . g.75748
ttctctgggaccgttacattttgaaatatgcaaagaaagactttttttttaaggaaagga c.*60
. . . . . . g.75808
aaaccttataatgacgattcatgagtgttagctttttggcgtgttctgaatgccaactgc c.*120
. . . . . . g.75868
ctatatttgctgcatttttttcattgtttattttccttttctcatggtggacatacaatt c.*180
. . . . . . g.75928
ttactgtttcattgcataacatggtagcatctgtgacttgaatgagcagcactttgcaac c.*240
. . . . . . g.75988
ttcaaaacagatgcagtgaactgtggctgtatatgcatgctcattgtgtgaaggctagcc c.*300
. . . . . . g.76048
taacagaacaggaggtatcaaactagctgctatgtgcaaacagcgtccattttttcatat c.*360
. . . . . . g.76108
tagaggtggaacctcaagaatgactttattcttgtatctcatctcaaaatattaataatt c.*420
. . . . . . g.76168
tttttcccaaaagatggtatataccaagttaaagacagggtattataaatttagagtgat c.*480
. . . . . . g.76228
tggtggtatattacggaaatacggaacctttagggatagttccgtgtaagggctttgatg c.*540
. . . . . . g.76288
ccagcatccttggatcagtactgaactcagttccatccgtaaaatatgtaaaggtaagtg c.*600
. . . . . . g.76348
gcagctgctctatttaatgaaagcagttttaccggattttgttagactaaaatttgattg c.*660
. . . . . . g.76408
tgatacattgaacaaaatggaactcatttttttttaaggagtaaagatttttaattctgt c.*720
. . . . . . g.76468
gattgtgtgtatgtgtgttgaaactgtaaagcttttatgactctaatattaatctcttaa c.*780
. . . . . . g.76528
atgaaattaaaaggcaaaagaacatgattgagcttaaatgatcatttcttcctgcagtga c.*840
. . . . . . g.76588
ttcttggattgttttctcatgtatttgaaaaaaaaaaaatgaagaaaaataatggaaaat c.*900
. . . . . . g.76648
ggaagtaattactccagctaaaaaaagcttggacttagatttctttttatgataccaaat c.*960
. . . . . . g.76708
gagaaataaaccaggcaaatcagaaggaagttaaagaagcaaatataaattcaacaagtg c.*1020
. . . . . . g.76768
tcctaattatcctggatattggaatatttgattttccttacaatcccgttctagaatgcc c.*1080
. . . . . . g.76828
tgccgcctttcaacactttcaagagaatttcaacacttacagagtatttatattgttaac c.*1140
. . . . . . g.76888
agtaattttgctaccaaaaccttcagaataactttaataataaaatgacactgaaataat c.*1200
. . . . . . g.76948
agactatacaaactctatattttttcagttggtgttaaaataagtcacattttgatacca c.*1260
. . . . . . g.77008
gtacaagatgtcttttaaataaggatgtcatcagtctgatttttatagcattaatgtttt c.*1320
. . . . . . g.77068
atgaagaaaaagttcaaaatgaaagcattaattgctgtgattattagaattctatcatga c.*1380
. . . . . . g.77128
ctgtattgtagtttttgctctatttcagataagcaagatctaagaagttatcaaaactat c.*1440
. . . . . . g.77188
tctttaaaatgctaaagcaggtaactttttcttccattattttttcctcctaccactgag c.*1500
. . . . . . g.77248
ttttgtaatgaattccttgtgtatacaagcaatacaggtgaatactaaactgttattttt c.*1560
. . . . . . g.77308
agcttcttcaaaagctattttagaaagcttcctggaaataaatgtcttctgtcatttaat c.*1620
. . . . . . g.77368
ttaaataaaaggagtgttaattgttcccaaatttgattacctagctgaaacagatattgg c.*1680
. . . . . . g.77428
attcagcatagtaatagtaaaataaaattggcagagaaaataactgtagactaggataaa c.*1740
. . . . . . g.77488
gcatgactcctccatagcattgttgcttgtatgtacatctgtcactccactgaaagggac c.*1800
. . . . . . g.77548
ctagtcactttaaagaggccttttatctcagcacgagatatccaagcgtgaatgctaagg c.*1860
. . . . . . g.77608
cttgatgtttccattaggatttagcattcgagatttcagattttatttatagtcattgat c.*1920
. . . . . . g.77668
gtgttttgctgtattataacacatttaagggaaattttattatggtttttacatgtagtc c.*1980
. . . . . . g.77728
atttcataaaaatatccagataggtaaatggaagaaaatagtagattttagtcatggtac c.*2040
. . . . . . g.77788
caaatgcaagaggctgttgaacagttgcttgtttgtttacagtaagttccttgagatttt c.*2100
. . . . . . g.77848
cagtactgtagttgccctggacattgagtacagttcagccttactctgtttttaagtagt c.*2160
. . . . . . g.77908
tgtgttgtcaatttcatgcttttaagtcctgatgatccttggagatgggagaaaaagata c.*2220
. . . . . . g.77968
ccagggataattaaaatccacagccagtttcatcagtttcctcatccatcctgcaaataa c.*2280
. . . . . . g.78028
aaatgttaacaaggagccaaacttattcgttctggttttacaatttattttgaccgtttt c.*2340
. . . . . . g.78088
ttgggtgaaaattgcaaacagccaagcaagtggctggaatgccccagtctaagaaattca c.*2400
. . . . . . g.78148
aaaacaatcactgagtaagccctaattacattaattacattttactcttgactccaggaa c.*2460
. . . . . . g.78208
aagaaagcaagcttttatctaatctagagggaagtattcgtgagcaataaaaatcacttt c.*2520
. . . . . . g.78268
tttgagttgaataataatcagttaagaatatttaccgcatagcaacacaacatataaaga c.*2580
. . . . . . g.78328
tttgttacaagttgtttacggatgtttgactatttttgctgaagtattttagagtattga c.*2640
. . . . . . g.78388
atgtcttctctcttcaagtttctttcatgttcctaatttcagctcctgtagccagagatc c.*2700
. . . . . . g.78448
acaggtcttccctgtgaaactttggtttctttctataaatgtgtgtggttttcagcgctc c.*2760
. . . . . . g.78508
aactcctgtcttcaaatggtagtaagttctacttctacttctgtcattcagaacatttta c.*2820
. . . . . . g.78568
tgtcaaatgatgtaatgcagaaattcttgtgcatatttgtaactgaaggaagctttttag c.*2880
. . . . g.78616
atttatttttgtttttaataaaattcagattcctattctaaactggta c.*2928
(downstream sequence)
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