(used for variant description)
(last modified April 28, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005921.1 in the MAP3K1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031884.1, covering MAP3K1 transcript NM_005921.1.
(upstream sequence)
. . g.5021
caccagaaacccaagttggaa c.-481
. . . . . . g.5081
ctaattctttctttcggaaggtgcaactcccctcccgcgagctccgcggtgccgggccga c.-421
. . . . . . g.5141
gattgccgagaggaagcggcgcagcgctgccgccaaggctcctcctgtcgccggtgcggc c.-361
. . . . . . g.5201
cgggactacctggcggcgcggcgcgtgcagcgcgcagagtcccgggagcccacgcctccg c.-301
. . . . . . g.5261
cctccgcccccgccccctccgcctcccagtccacctcgcccgcccgccctctcgcccggc c.-241
. . . . . . g.5321
ggagagcacagcccactccctcccacctgcggccgccgggccgccctccacccacacctc c.-181
. . . . . . g.5381
tgccgcaggccggacccagtgcgcccgcccgtcggtcagtccaggccaggcgcccggcgg c.-121
. . . . . . g.5441
gccgcgctcacgcagttggcgcaggaggccttacgctggcggcgcagtgcccgccccctg c.-61
. . . . . . g.5501
cgctctccccgccccctccctccctcgcaggggccgagcgaatgtagcccgcgagagaaa c.-1
. . . . . . g.5561
ATGGCGGCGGCGGCGGGGAATCGCGCCTCGTCGTCGGGATTCCCGGGCGCCAGGGCTACG c.60
M A A A A G N R A S S S G F P G A R A T p.20
. . . . . . g.5621
AGCCCTGAGGCAGGCGGCGGCGGAGGAGCCCTCAAGGCGAGCAGCGCGCCCGCGGCTGCC c.120
S P E A G G G G G A L K A S S A P A A A p.40
. . . . . . g.5681
GCGGGACTGCTGCGGGAGGCGGGCAGCGGGGGCCGCGAGCGGGCGGACTGGCGGCGGCGG c.180
A G L L R E A G S G G R E R A D W R R R p.60
. . . . . . g.5741
CAGCTGCGCAAAGTGCGGAGTGTGGAGCTGGACCAGCTGCCTGAGCAGCCGCTCTTCCTT c.240
Q L R K V R S V E L D Q L P E Q P L F L p.80
. . . . . . g.5801
GCCGCCTCACCGCCGGCCTCCTCGACTTCCCCGTCGCCGGAGCCCGCGGACGCAGCGGGG c.300
A A S P P A S S T S P S P E P A D A A G p.100
. . . . . . g.5861
AGTGGGACCGGCTTCCAGCCTGTGGCGGTGCCGCCGCCCCACGGAGCCGCGAGCCGCGGC c.360
S G T G F Q P V A V P P P H G A A S R G p.120
. . . . . . g.5921
GGCGCCCACCTTACCGAGTCGGTGGCGGCGCCGGACAGCGGCGCCTCGAGTCCCGCAGCG c.420
G A H L T E S V A A P D S G A S S P A A p.140
. . . . . . g.5981
GCCGAGCCCGGGGAGAAGCGGGCGCCCGCCGCCGAGCCGTCTCCTGCAGCGGCCCCCGCC c.480
A E P G E K R A P A A E P S P A A A P A p.160
| 02 . . . . . . g.46585
GG | TCGTGAGATGGAGAATAAAGAAACTCTCAAAGGGTTGCACAAGATGGATGATCGTCCA c.540
G | R E M E N K E T L K G L H K M D D R P p.180
. . . . . . g.46645
GAGGAACGAATGATCAGGGAGAAACTGAAGGCAACCTGTATGCCAGCCTGGAAGCACGAA c.600
E E R M I R E K L K A T C M P A W K H E p.200
. . . | 03 . . . g.49669
TGGTTGGAAAGGAGAAATAGGCGAGGGCCTGTG | GTGGTAAAACCAATCCCAGTTAAAGGA c.660
W L E R R N R R G P V | V V K P I P V K G p.220
. . . . . . g.49729
GATGGATCTGAAATGAATCACTTAGCAGCTGAGTCTCCAGGAGAGGTCCAGGCAAGTGCG c.720
D G S E M N H L A A E S P G E V Q A S A p.240
. . . . . . g.49789
GCTTCACCAGCTTCCAAAGGCCGACGCAGTCCTTCTCCTGGCAACTCCCCATCAGGTCGC c.780
A S P A S K G R R S P S P G N S P S G R p.260
. . . . . | 04 . g.54667
ACAGTGAAATCAGAATCTCCAGGAGTAAGGAGAAAAAGAGTTTCCCCAGTGCCT | TTTCAG c.840
T V K S E S P G V R R K R V S P V P | F Q p.280
. . . . . . g.54727
AGTGGCAGAATCACACCACCCCGAAGAGCCCCTTCACCAGATGGCTTCTCACCATATAGC c.900
S G R I T P P R R A P S P D G F S P Y S p.300
. . . . . . g.54787
CCTGAGGAAACAAACCGCCGTGTTAACAAAGTGATGCGGGCCAGACTGTACTTACTGCAG c.960
P E E T N R R V N K V M R A R L Y L L Q p.320
. . . . . . g.54847
CAGATAGGGCCTAACTCTTTCCTGATTGGAGGAGACAGCCCAGACAATAAATACCGGGTG c.1020
Q I G P N S F L I G G D S P D N K Y R V p.340
. | 05 . . . . . g.55312
TTTATTGGGCCTCAG | AACTGCAGCTGTGCACGTGGAACATTCTGTATTCATCTGCTATTT c.1080
F I G P Q | N C S C A R G T F C I H L L F p.360
. . . . . . g.55372
GTGATGCTCCGGGTGTTTCAACTAGAACCTTCAGACCCAATGTTATGGAGAAAAACTTTA c.1140
V M L R V F Q L E P S D P M L W R K T L p.380
. | 06 . . . . . g.55804
AAGAATTTTGAG | GTTGAGAGTTTGTTCCAGAAATATCACAGTAGGCGTAGCTCAAGGATC c.1200
K N F E | V E S L F Q K Y H S R R S S R I p.400
. . . . . . g.55864
AAAGCTCCATCTCGTAACACCATCCAGAAGTTTGTTTCACGCATGTCAAATTCTCATACA c.1260
K A P S R N T I Q K F V S R M S N S H T p.420
. . . . | 07 . . g.61856
TTGTCATCATCTAGTACTTCTACGTCTAGTTCAGAAAACAG | CATAAAGGATGAAGAGGAA c.1320
L S S S S T S T S S S E N S | I K D E E E p.440
. . . . . . g.61916
CAGATGTGTCCTATTTGCTTGTTGGGCATGCTTGATGAAGAAAGTCTTACAGTGTGTGAA c.1380
Q M C P I C L L G M L D E E S L T V C E p.460
. . . . | 08 . . g.62585
GACGGCTGCAGGAACAAGCTGCACCACCACTGCATGTCAATTT | GGGCAGAAGAGTGTAGA c.1440
D G C R N K L H H H C M S I W | A E E C R p.480
. . . . . . g.62645
AGAAATAGAGAACCTTTAATATGTCCCCTTTGTAGATCTAAGTGGAGATCTCATGATTTC c.1500
R N R E P L I C P L C R S K W R S H D F p.500
| 09 . . . . . . g.62807
TACAG | CCACGAGTTGTCAAGTCCTGTGGATTCCCCTTCTTCCCTCAGAGCTGCACAGCAG c.1560
Y S | H E L S S P V D S P S S L R A A Q Q p.520
. . . . . . g.62867
CAAACCGTACAGCAGCAGCCTTTGGCTGGATCACGAAGGAATCAAGAGAGCAATTTTAAC c.1620
Q T V Q Q Q P L A G S R R N Q E S N F N p.540
. . . . . . g.62927
CTTACTCATTATGGAACTCAGCAAATCCCTCCTGCTTACAAAGATTTAGCTGAGCCATGG c.1680
L T H Y G T Q Q I P P A Y K D L A E P W p.560
| 10 . . . . . . g.65013
ATTCAG | GTGTTTGGAATGGAACTCGTTGGCTGCTTATTTTCTAGAAACTGGAATGTGAGA c.1740
I Q | V F G M E L V G C L F S R N W N V R p.580
. . . . . . g.65073
GAGATGGCCCTCAGGCGTCTTTCCCATGATGTCAGTGGGGCCCTGCTGTTGGCAAATGGG c.1800
E M A L R R L S H D V S G A L L L A N G p.600
. . . . . . g.65133
GAGAGCACTGGAAATTCTGGGGGCAGCAGTGGAAGCAGCCCGAGTGGGGGAGCCACCAGT c.1860
E S T G N S G G S S G S S P S G G A T S p.620
. . . . . . g.65193
GGGTCTTCCCAGACCAGTATCTCAGGAGATGTGGTGGAGGCATGCTGCAGCGTTCTGTCA c.1920
G S S Q T S I S G D V V E A C C S V L S p.640
. . . . | 11 . . g.68922
ATGGTCTGTGCTGACCCTGTCTACAAAGTGTACGTTGCTGCTTTA | AAAACATTGAGAGCC c.1980
M V C A D P V Y K V Y V A A L | K T L R A p.660
. . . . . . g.68982
ATGCTGGTATATACTCCTTGCCACAGTTTAGCGGAAAGAATCAAACTTCAGAGACTTCTC c.2040
M L V Y T P C H S L A E R I K L Q R L L p.680
. . . . | 12. . g.70651
CAGCCAGTTGTAGACACCATCCTAGTCAAATGTGCAGATGCCAATAG | CCGCACAAGTCAG c.2100
Q P V V D T I L V K C A D A N S | R T S Q p.700
. . . . . . g.70711
CTGTCCATATCAACACTGTTGGAACTGTGCAAAGGCCAAGCAGGAGAGTTGGCAGTTGGC c.2160
L S I S T L L E L C K G Q A G E L A V G p.720
. | 13 . . . . g.71051
AGAGAAATACTAAAAGCTG | GATCCATTGGTATTGGTGGTGTTGATTATGTCTTAAATTGT c.2220
R E I L K A G | S I G I G G V D Y V L N C p.740
. . . . . . g.71111
ATTCTTGGAAACCAAACTGAATCAAACAATTGGCAAGAACTTCTTGGCCGCCTTTGTCTT c.2280
I L G N Q T E S N N W Q E L L G R L C L p.760
. . . . . . g.71171
ATAGATAGACTGTTGTTGGAATTTCCTGCTGAATTTTATCCTCATATTGTCAGTACTGAT c.2340
I D R L L L E F P A E F Y P H I V S T D p.780
. . | 14 . . . g.71528
GTTTCACAAGCTGAGCCTGTTGAAATCAG | GTATAAGAAGCTGCTGTCCCTCTTAACCTTT c.2400
V S Q A E P V E I R | Y K K L L S L L T F p.800
. . . . . . g.71588
GCTTTGCAGTCCATTGATAATTCCCACTCAATGGTTGGCAAACTTTCCAGAAGGATCTAC c.2460
A L Q S I D N S H S M V G K L S R R I Y p.820
. . . . . . g.71648
TTGAGTTCTGCAAGAATGGTTACTACAGTACCCCATGTGTTTTCAAAACTGTTAGAAATG c.2520
L S S A R M V T T V P H V F S K L L E M p.840
. . . . . . g.71708
CTGAGTGTTTCCAGTTCCACTCACTTCACCAGGATGCGTCGCCGTTTGATGGCTATTGCA c.2580
L S V S S S T H F T R M R R R L M A I A p.860
. . . . . . g.71768
GATGAGGTGGAAATTGCCGAAGCCATCCAGTTGGGCGTAGAAGACACTTTGGATGGTCAA c.2640
D E V E I A E A I Q L G V E D T L D G Q p.880
. . . . . . g.71828
CAGGACAGCTTCTTGCAGGCATCTGTTCCCAACAACTATCTGGAAACCACAGAGAACAGT c.2700
Q D S F L Q A S V P N N Y L E T T E N S p.900
. . . . . . g.71888
TCCCCTGAGTGCACAGTCCATTTAGAGAAAACTGGAAAAGGATTATGTGCTACAAAATTG c.2760
S P E C T V H L E K T G K G L C A T K L p.920
. . . . . . g.71948
AGTGCCAGTTCAGAGGACATTTCTGAGAGACTGGCCAGCATTTCAGTAGGACCTTCTAGT c.2820
S A S S E D I S E R L A S I S V G P S S p.940
. . . . . . g.72008
TCAACAACAACAACAACAACAACAACAGAGCAACCAAAGCCAATGGTTCAAACAAAAGGC c.2880
S T T T T T T T T E Q P K P M V Q T K G p.960
. . . . . . g.72068
AGACCCCACAGTCAGTGTTTGAACTCCTCTCCTTTATCTCATCATTCCCAATTAATGTTT c.2940
R P H S Q C L N S S P L S H H S Q L M F p.980
. . . . . . g.72128
CCAGCCTTGTCAACCCCTTCTTCTTCTACCCCATCTGTACCAGCTGGCACTGCAACAGAT c.3000
P A L S T P S S S T P S V P A G T A T D p.1000
. . . . . . g.72188
GTCTCTAAGCATAGACTTCAGGGATTCATTCCCTGCAGAATACCTTCTGCATCTCCTCAA c.3060
V S K H R L Q G F I P C R I P S A S P Q p.1020
. . . . . . g.72248
ACACAGCGCAAGTTTTCTCTACAATTCCACAGAAACTGTCCTGAAAACAAAGACTCAGAT c.3120
T Q R K F S L Q F H R N C P E N K D S D p.1040
. . . . . . g.72308
AAACTTTCCCCAGTCTTTACTCAGTCAAGACCCTTGCCCTCCAGTAACATACACAGGCCA c.3180
K L S P V F T Q S R P L P S S N I H R P p.1060
. . . . . . g.72368
AAGCCATCTAGACCTACCCCAGGTAATACAAGTAAACAGGGAGATCCCTCAAAAAATAGC c.3240
K P S R P T P G N T S K Q G D P S K N S p.1080
. . . . . . g.72428
ATGACACTTGATCTGAACAGTAGTTCCAAATGTGATGACAGCTTTGGCTGTAGCAGCAAT c.3300
M T L D L N S S S K C D D S F G C S S N p.1100
. . . . . . g.72488
AGTAGTAATGCTGTTATACCCAGTGACGAGACAGTGTTCACCCCAGTAGAGGAGAAATGC c.3360
S S N A V I P S D E T V F T P V E E K C p.1120
. . . . . . g.72548
AGATTAGATGTCAATACAGAGCTCAACTCCAGTATTGAGGACCTTCTTGAAGCATCTATG c.3420
R L D V N T E L N S S I E D L L E A S M p.1140
. . . . . . g.72608
CCTTCAAGTGATACAACAGTAACTTTTAAGTCAGAAGTTGCTGTCCTGTCTCCTGAAAAG c.3480
P S S D T T V T F K S E V A V L S P E K p.1160
. . . . . . g.72668
GCTGAAAATGATGATACCTACAAAGATGATGTGAATCATAATCAAAAGTGCAAAGAGAAG c.3540
A E N D D T Y K D D V N H N Q K C K E K p.1180
. . . . . . g.72728
ATGGAAGCTGAAGAAGAAGAAGCTTTAGCAATTGCCATGGCAATGTCAGCGTCTCAGGAT c.3600
M E A E E E E A L A I A M A M S A S Q D p.1200
. . . . . . g.72788
GCCCTCCCCATAGTTCCTCAGCTGCAGGTTGAAAATGGAGAAGATATCATCATTATTCAA c.3660
A L P I V P Q L Q V E N G E D I I I I Q p.1220
| 15 . . . . . . g.73508
CAGGAT | ACACCAGAGACTCTACCAGGACATACCAAAGCAAAACAACCGTATAGAGAAGAC c.3720
Q D | T P E T L P G H T K A K Q P Y R E D p.1240
. . . . . . g.73568
ACTGAATGGCTGAAAGGTCAACAGATAGGCCTTGGAGCATTTTCTTCTTGTTATCAGGCT c.3780
T E W L K G Q Q I G L G A F S S C Y Q A p.1260
. . . | 16 . . g.74612
CAAGATGTGGGAACTGGAACTTTAATGGCTGTTAAACAG | GTGACTTATGTCAGAAACACA c.3840
Q D V G T G T L M A V K Q | V T Y V R N T p.1280
. . . . . . g.74672
TCTTCTGAGCAAGAAGAAGTAGTAGAAGCACTAAGAGAAGAGATAAGAATGATGAGCCAT c.3900
S S E Q E E V V E A L R E E I R M M S H p.1300
. . . . . . g.74732
CTGAATCATCCAAACATCATTAGGATGTTGGGAGCCACGTGTGAGAAGAGCAATTACAAT c.3960
L N H P N I I R M L G A T C E K S N Y N p.1320
. . | 17 . . . . g.75897
CTCTTCATTGAATGGATGGCAG | GGGGATCGGTGGCTCATTTGCTGAGTAAATATGGAGCC c.4020
L F I E W M A G | G S V A H L L S K Y G A p.1340
. . . . . . g.75957
TTCAAAGAATCAGTAGTTATTAACTACACTGAACAGTTACTCCGTGGCCTTTCGTATCTC c.4080
F K E S V V I N Y T E Q L L R G L S Y L p.1360
. . . | 18 . . . g.77331
CATGAAAACCAAATCATTCACAGAGATGTCAAAG | GTGCCAATTTGCTAATTGACAGCACT c.4140
H E N Q I I H R D V K G | A N L L I D S T p.1380
. . . . . . g.77391
GGTCAGAGACTAAGAATTGCAGATTTTGGAGCTGCAGCCAGGTTGGCATCAAAAGGAACT c.4200
G Q R L R I A D F G A A A R L A S K G T p.1400
. . . . . | 19. g.78156
GGTGCAGGAGAGTTTCAGGGACAATTACTGGGGACAATTGCATTTATGGCACCTGAG | GTA c.4260
G A G E F Q G Q L L G T I A F M A P E | V p.1420
. . . . . . g.78216
CTAAGAGGTCAACAGTATGGAAGGAGCTGTGATGTATGGAGTGTTGGCTGTGCTATTATA c.4320
L R G Q Q Y G R S C D V W S V G C A I I p.1440
. . . . . . g.78276
GAAATGGCTTGTGCAAAACCACCATGGAATGCAGAAAAACACTCCAATCATCTTGCTTTG c.4380
E M A C A K P P W N A E K H S N H L A L p.1460
| 20 . . . . . g.83509
ATATTTAAG | ATTGCTAGTGCAACTACTGCTCCATCGATCCCTTCACATTTGTCTCCTGGT c.4440
I F K | I A S A T T A P S I P S H L S P G p.1480
. . . . . . g.83569
TTACGAGATGTGGCTCTTCGTTGTTTAGAACTTCAACCTCAGGACAGACCTCCATCAAGA c.4500
L R D V A L R C L E L Q P Q D R P P S R p.1500
. . . g.83608
GAGCTACTGAAGCATCCAGTCTTTCGTACTACATGGTAG c.4539
E L L K H P V F R T T W X p.1512
. . . . . . g.83668
ccaattatgcagatcaactacagtagaaacaggatgctcaacaagagaaaaaaaacttgt c.*60
. . . . . . g.83728
ggggaaccacattgatattctactggccatgatgccactgaacagctatgaacgaggcca c.*120
. . . . . . g.83788
gtggggaacccttacctaagtatgtgattgacaaatcatgatctgtacctaagctcagta c.*180
. . . . . . g.83848
tgcaaaagcccaaactagtgcagaaactgtaaactgtgcctttcaaagaactggccctag c.*240
. . . . . . g.83908
gtgaacaggaaaacaatgaagtttgcatgactaaattgcagaagcataattttatttttt c.*300
. . . . . . g.83968
tggagcactttttcagcaatattagcggctgaggggctcaggatctattttaatatttca c.*360
. . . . . . g.84028
attattcttccatttcatatagtgatcacaagcagggggttctgcaattccgttcaaatt c.*420
. . . . . . g.84088
ttttgtcactggctataaaatcagtatctgcctcttttaggtcagagtatgctatgagta c.*480
. . . . . . g.84148
gcaatacatacatatatttttaaaagttgatacttctttatgacccacagttgaccttta c.*540
. . . . . . g.84208
ttttcttaaataccagggcagttgtggctcattgtgcattttactgttggcccattcatt c.*600
. . . . . . g.84268
tcgtttttggaaattatggttttgtattttcatgtttatttacattcatttttgtttatt c.*660
. . . . . . g.84328
cagggaaagctgatctttttttcaaaccagaaaaaaaaaatgaactagatatgaagtaga c.*720
. . . . . . g.84388
gttcattaaatatcttgctattgtcagagtttttaaaatatagacttaattttgtttttt c.*780
. . . . . . g.84448
taaattggaatacaataaagtactacctacatttgagtcagtcaccactcttattgtgca c.*840
. . . . . . g.84508
ggttaagtacaagttaactaaaaataaactgtcctctctggtgcaactcacaaccaagat c.*900
. . . . . . g.84568
caagattaccttaaaatttatttgaattttttagatgttttggttgtcaaactgtaggaa c.*960
. . . . . . g.84628
acttcacaacatttaagtcttactctgtatgtaacaatccatcattcaccttcactactg c.*1020
. . . . . . g.84688
gtagtaacatagagctgccattttccttttaccatgcatcatctctttacagtaggcctg c.*1080
. . . . . . g.84748
gcagatcattttttaaaaagattattcaactaccaatcagtaatgtttttaaacagtaca c.*1140
. . . . . . g.84808
tttgctttgaacttggaaaatgtgttcagaaagaaaaatggaattgaatttcatttatac c.*1200
. . . . . . g.84868
actaattccttggattttgcacagttacctaacggttttagtctggagttaaattcagat c.*1260
. . . . . . g.84928
gcatggaatcctgaaggaaaatggtagctttttaatctttttgtgtgtgtgtgagtcttt c.*1320
. . . . . . g.84988
taaatcaagtactgattaactattaagtacaactttgagattttagttttaactcttcag c.*1380
. . . . . . g.85048
aagccagtgtgaaatagaattggttattctcaaagactcaggataaactaaataagctat c.*1440
. . . . . . g.85108
atatagagtacatttaaaatgtacaacacaaattggaaataaaataagttacaagataag c.*1500
. . . . . . g.85168
tttacagggatatattgcttacaatttttaaaaggcagtttgttttttatgtgaatatgt c.*1560
. . . . . . g.85228
ttcttagtgaaattttacattcctttgttttggaagattggcgatatttgaagagttaaa c.*1620
. . . . . . g.85288
aatagtacagaaatgtgaagtttggtatctctaaatgtgttgtacttgactttctttttt c.*1680
. . . . . . g.85348
attttgtttttttttttttttgactacttagaattttcacaattctaataagattgtttc c.*1740
. . . . . . g.85408
caagtctctcatgtgcaagctttaaaggatgcactcttgccattttatgtactggaagat c.*1800
. . . . . . g.85468
cattggtcagatgaatactgtgtctgacaaaaatgtaaactgtataaactgaggaacctc c.*1860
. . . . . . g.85528
agctaatcagtattactttgtagatcaccatgcccaccacatttcaaactcaaactatct c.*1920
. . . . . . g.85588
gtagatttcaaaatccattgtgtttgagtttgtttgcagttccctcagcttgctggtaat c.*1980
. . . . . . g.85648
tgtggtgttttgttttttgttttgttttcaatgcaaatgtgatgtaatattcttattttc c.*2040
. . . . . . g.85708
tttggatcaaagctggactggaaattgtatcgtgtaattatttttgtgttcttaatgtta c.*2100
. . . . . . g.85768
tttggtactcaagttgtaaataacgtctactactgtttattccagtttctactacctcag c.*2160
. . . . . . g.85828
gtgtcctatagatttttcttctaccaaagttcactttcacaatgaaattatatttgctgt c.*2220
. . . . . . g.85888
gtgactatgattcctaagatttccagggcttaagggctaacttctattagcaccttactg c.*2280
. . . . . . g.85948
tgtaagcaaatgttacaaaaaaaaaaaaaaaaaatctctgggttaagaaaatttggctta c.*2340
. . . . . . g.86008
aatgtatcctttgttattttaaatatattgagatattttaattaaaatttttaccccatt c.*2400
. . . . . . g.86068
gaaccgattttatagtatttgtacctattttggtgtttttgtctttatagtaaataaaag c.*2460
. g.86080
tttttgaacaaa c.*2472
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21c
©2004-2019 Leiden University Medical Center