(used for variant description)
(last modified March 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001001671.3 in the MAP3K15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021184.1, covering MAP3K15 transcript NM_001001671.3.
(upstream sequence)
. . . . . . g.60
ATGGAGAGCGGCGGTGGGAATGCTCCGGCCGGGGCCCTCGGGGCGGCGAGCGAGTCCCCT c.60
M E S G G G N A P A G A L G A A S E S P p.20
. . . . . . g.120
CAGTGCCCGCCGCCGCCGGGGGTGGAGGGCGCGGCCGGGCCGGCGGAGCCCGACGGGGCG c.120
Q C P P P P G V E G A A G P A E P D G A p.40
. . . . . . g.180
GCGGAGGGCGCGGCAGGCGGCAGCGGCGAGGGCGAGAGTGGGGGCGGGCCGCGGCGGGCT c.180
A E G A A G G S G E G E S G G G P R R A p.60
. . . . . . g.240
CTGCGGGCAGTATACGTGCGCAGTGAGAGCTCCCAGGGCGGCGCGGCCGGCGGCCCGGAG c.240
L R A V Y V R S E S S Q G G A A G G P E p.80
. . . . . . g.300
GCTGGGGCGCGGCAGTGCCTGCTGCGGGCCTGCGAGGCCGAGGGCGCTCACCTCACCTCC c.300
A G A R Q C L L R A C E A E G A H L T S p.100
. . . . . . g.360
GTGCCCTTCGGGGAGCTGGACTTCGGGGAGACGGCCGTGCTCGACGCCTTCTACGACGCA c.360
V P F G E L D F G E T A V L D A F Y D A p.120
| 02 . . . . . . g.26353
G | ATGTTGCTGTGGTAGACATGAGCGATGTCTCCAGACAGCCTTCCCTCTTCTACCATCTT c.420
D | V A V V D M S D V S R Q P S L F Y H L p.140
. . . . . . g.26413
GGAGTCCGAGAAAGCTTTGACATGGCCAATAATGTGATCTTGTACCATGACACCGATGCC c.480
G V R E S F D M A N N V I L Y H D T D A p.160
. . | 03 . . | 04 . . g.50870
GACACTGCTCTCTCTTTGAAG | GACATGGTAACTCAAAAAAACACA | GCATCCAGTGGAAAT c.540
D T A L S L K | D M V T Q K N T | A S S G N p.180
. . . . . . g.50930
TATTATTTCATCCCATACATCGTGACACCGTGCGCTGATTATTTTTGCTGCGAGAGTGAT c.600
Y Y F I P Y I V T P C A D Y F C C E S D p.200
. . . . . . g.50990
GCCCAGAGACGAGCCTCCGAGTACATGCAGCCCAACTGGGACAACATCCTGGGCCCGCTG c.660
A Q R R A S E Y M Q P N W D N I L G P L p.220
. . . . . | 05 g.55109
TGCATGCCTTTGGTGGACAGGTTCATTAGCCTCCTTAAGGACATCCACGTGACCTCATG | T c.720
C M P L V D R F I S L L K D I H V T S C | p.240
. . . . . . g.55169
GTTTATTACAAAGAAACCTTGTTAAATGACATCCGGAAAGCCAGAGAGAAATACCAAGGT c.780
V Y Y K E T L L N D I R K A R E K Y Q G p.260
. . . . . . g.55229
GAGGAACTGGCGAAGGAGCTAGCTCGGATCAAGCTCCGCATGGATAATACTGAGGTTCTG c.840
E E L A K E L A R I K L R M D N T E V L p.280
. . . . | 06 . g.58254
ACCTCAGACATCATCATTAACTTACTCCTGTCCTACCGTGATATCCAG | GACTATGATGCG c.900
T S D I I I N L L L S Y R D I Q | D Y D A p.300
. . . . . . g.58314
ATGGTGAAGCTGGTGGAAACACTGGAGATGCTGCCTACGTGTGATTTGGCCGATCAGCAT c.960
M V K L V E T L E M L P T C D L A D Q H p.320
. . . | 07 . . . g.83678
AACATTAAATTCCACTATGCGTTTGCACTGAATAG | GAGAAACAGCACAGGTGACCGTGAG c.1020
N I K F H Y A F A L N R | R N S T G D R E p.340
. . . . . . g.83738
AAGGCTCTGCAGATCATGCTCCAGGTTCTGCAGAGCTGTGATCACCCGGGCCCCGACATG c.1080
K A L Q I M L Q V L Q S C D H P G P D M p.360
. . . . . . g.83798
TTCTGCCTGTGTGGGAGGATCTACAAGGACATCTTCTTGGATTCAGACTGCAAAGATGAC c.1140
F C L C G R I Y K D I F L D S D C K D D p.380
. . | 08 . . . . g.88952
ACCAGCCGCGACAGCGCCATTGAGTG | GTATCGCAAAGGGTTTGAACTCCAGTCATCCCTC c.1200
T S R D S A I E W | Y R K G F E L Q S S L p.400
. . . . . . g.89012
TATTCGGGAATTAATCTTGCAGTTTTGCTGATTGTTGCTGGACAACAATTTGAAACTTCC c.1260
Y S G I N L A V L L I V A G Q Q F E T S p.420
. | 09 . . . . g.89612
TTGGAACTAAGGAAAATAG | GTGTCCGGCTGAACAGTTTGTTGGGAAGAAAAGGGAGCTTG c.1320
L E L R K I G | V R L N S L L G R K G S L p.440
. . . . . . g.89672
GAGAAAATGAACAATTACTGGGATGTGGGTCAGTTCTTCAGCGTCAGCATGCTGGCCCAT c.1380
E K M N N Y W D V G Q F F S V S M L A H p.460
. . . . . | 10 g.100005
GATGTCGGGAAAGCCGTCCAGGCAGCAGAGAGGTTGTTCAAACTGAAACCTCCAGTCTG | G c.1440
D V G K A V Q A A E R L F K L K P P V W | p.480
. . . . . . g.100065
TACCTGCGATCATTAGTTCAGAACTTGTTACTAATTCGGCGCTTCAAGAAAACCATTATT c.1500
Y L R S L V Q N L L L I R R F K K T I I p.500
. . . . . . g.100125
GAACACTCGCCCAGGCAAGAGCGGCTGAACTTCTGGTTAGATATAATTTTTGAGGCAACA c.1560
E H S P R Q E R L N F W L D I I F E A T p.520
. . . | 11 . . . g.101827
AATGAAGTCACTAATGGACTCAGATTTCCA | GTTCTGGTCATAGAGCCAACCAAAGTGTAC c.1620
N E V T N G L R F P | V L V I E P T K V Y p.540
. . . . . . g.101887
CAGCCTTCTTATGTTTCCATAAACAATGAAGCCGAGGAGAGAACAGTTTCTTTATGGCAT c.1680
Q P S Y V S I N N E A E E R T V S L W H p.560
. | 12 . . . . g.105330
GTCTCACCCACAGAAATG | AAACAGATGCACGAATGGAATTTTACAGCCTCTTCCATAAAG c.1740
V S P T E M | K Q M H E W N F T A S S I K p.580
| 13 . . . . . g.108030
GGAATAAG | CCTATCAAAGTTTGATGAAAGGTGTTGTTTTCTTTATGTCCATGATAATTCT c.1800
G I S | L S K F D E R C C F L Y V H D N S p.600
. . . . | 14 . . g.114614
GATGACTTTCAAATCTACTTTTCCACCGAAGAGCAGTGCAGTAG | ATTTTTCTCTTTGGTC c.1860
D D F Q I Y F S T E E Q C S R | F F S L V p.620
. . . . . . g.114674
AAAGAGATGATAACCAATACAGCAGGCAGTACGGTGGAGCTGGAGGGAGAGACCGATGGA c.1920
K E M I T N T A G S T V E L E G E T D G p.640
. | 15 . . . . . g.116950
GACACCTTGGAG | TATGAGTATGACCATGATGCAAATGGTGAGAGAGTTGTCTTGGGGAAA c.1980
D T L E | Y E Y D H D A N G E R V V L G K p.660
. . . . . . g.117010
GGCACGTATGGGATTGTGTATGCTGGCCGAGATCTGAGCAATCAAGTGCGAATAGCCATC c.2040
G T Y G I V Y A G R D L S N Q V R I A I p.680
. . | 16 . . . . g.120087
AAAGAAATCCCGGAGAGAGATAGCAG | GTATTCTCAGCCTCTGCACGAGGAGATAGCCCTG c.2100
K E I P E R D S R | Y S Q P L H E E I A L p.700
. . . . . . g.120147
CACAAGTACCTTAAGCACCGCAATATCGTTCAGTACCTGGGCTCTGTTTCAGAGAACGGC c.2160
H K Y L K H R N I V Q Y L G S V S E N G p.720
. . . | 17 . . . g.122814
TACATTAAGATATTTATGGAGCAGGTGCCTGGAG | GAAGCCTTTCTGCTCTTCTGCGATCC c.2220
Y I K I F M E Q V P G G | S L S A L L R S p.740
. . . . . . g.122874
AAATGGGGGCCGATGAAGGAACCGACAATCAAGTTTTACACCAAACAGATCCTGGAGGGC c.2280
K W G P M K E P T I K F Y T K Q I L E G p.760
. . . . | 18 . . g.123169
CTTAAGTATCTTCATGAAAACCAGATCGTGCACAGAGACATAAAG | GGCGATAATGTTCTG c.2340
L K Y L H E N Q I V H R D I K | G D N V L p.780
. . . . . . g.123229
GTGAACACCTACAGCGGAGTGGTGAAAATCTCCGATTTTGGAACCTCGAAACGTCTTGCG c.2400
V N T Y S G V V K I S D F G T S K R L A p.800
. . . | 19 . . . g.135013
GGTGTGAACCCCTGCACAGAGACTTTTACTG | GCACCCTGCAGTACATGGCACCTGAGATA c.2460
G V N P C T E T F T G | T L Q Y M A P E I p.820
. . . . . . g.135073
ATTGACCAAGGGCCTCGCGGATATGGTGCCCCAGCCGATATCTGGTCCCTGGGCTGCACC c.2520
I D Q G P R G Y G A P A D I W S L G C T p.840
. . . . . . g.135133
ATCATTGAGATGGCCACCAGCAAGCCTCCGTTCCATGAGCTTGGTGAGCCGCAGGCAGCC c.2580
I I E M A T S K P P F H E L G E P Q A A p.860
| 20 . . . . . g.140652
ATGTTCAAA | GTGGGCATGTTTAAGATCCACCCTGAGATTCCAGAAGCCCTTTCAGCTGAA c.2640
M F K | V G M F K I H P E I P E A L S A E p.880
. . . . . . g.140712
GCCCGAGCCTTCATTTTATCCTGTTTCGAGCCTGACCCCCACAAACGTGCCACCACTGCT c.2700
A R A F I L S C F E P D P H K R A T T A p.900
. . . . . . g.140772
GAGCTACTGAGAGAGGGTTTCTTAAGGCAGGTGAACAAGGGCAAGAAGAACCGAATTGCC c.2760
E L L R E G F L R Q V N K G K K N R I A p.920
. | 21 . . . . . g.141613
TTCAAGCCCTCAG | AAGGTCCCCGCGGTGTCGTCCTGGCCCTGCCCACACAGGGAGAGCCC c.2820
F K P S E | G P R G V V L A L P T Q G E P p.940
. . . . . . g.141673
ATGGCCACCAGCAGCAGCGAGCACGGCTCTGTCTCCCCAGACTCCGACGCCCAGCCTGAC c.2880
M A T S S S E H G S V S P D S D A Q P D p.960
. . . . . | 22 . g.142441
GCACTCTTTGAGAGGACCCGGGCGCCCAGGCACCACCTTGGCCACCTCCTCAG | TGTTCCA c.2940
A L F E R T R A P R H H L G H L L S | V P p.980
. . . . . . g.142501
GACGAGAGCTCAGCCTTGGAAGACCGGGGCTTGGCCTCGTCCCCGGAGGACAGGGACCAG c.3000
D E S S A L E D R G L A S S P E D R D Q p.1000
. . . . . . g.142561
GGCCTCTTCCTGCTACGCAAGGACAGTGAGCGCCGTGCCATCCTGTACAAAATCCTCTGG c.3060
G L F L L R K D S E R R A I L Y K I L W p.1020
. . . . | 23 . g.143743
GAGGAGCAGAACCAGGTGGCTTCCAACCTGCAGGAGTGTGTGGCCCAG | AGTTCCGAAGAG c.3120
E E Q N Q V A S N L Q E C V A Q | S S E E p.1040
. . . . . . g.143803
TTGCATCTCTCAGTTGGACACATCAAGCAAATCATTGGGATCCTGAGGGACTTCATCCGC c.3180
L H L S V G H I K Q I I G I L R D F I R p.1060
. . . . . . g.143863
TCCCCAGAGCACCGGGTGATGGCGACCACAATATCAAAGCTCAAGGTGGACCTGGACTTT c.3240
S P E H R V M A T T I S K L K V D L D F p.1080
. . . . . | 24 . g.144203
GACAGCTCGTCCATCAGTCAGATTCACCTGGTGCTGTTCGGATTTCAGGATGCC | GTAAAT c.3300
D S S S I S Q I H L V L F G F Q D A | V N p.1100
. . . . . . g.144263
AAAATTTTGAGGAACCACTTAATTAGGCCCCACTGGATGTTCGCGATGGACAACATCATC c.3360
K I L R N H L I R P H W M F A M D N I I p.1120
. . . . | 25 . . g.146062
CGCCGAGCGGTGCAGGCCGCGGTCACCATTCTCATCCCAG | AGCTCCGAGCCCACTTTGAG c.3420
R R A V Q A A V T I L I P E | L R A H F E p.1140
. . . . . . g.146122
CCTACCTGTGAGACTGAAGGGGTAGATAAGGACATGGATGAAGCGGAAGAGGGCTATCCC c.3480
P T C E T E G V D K D M D E A E E G Y P p.1160
. . . . . . g.146182
CCAGCCACCGGACCTGGCCAGGAGGCCCAGCCCCACCAGCAGCACCTGAGCCTCCAGCTG c.3540
P A T G P G Q E A Q P H Q Q H L S L Q L p.1180
. . | 26 . . . . g.152445
GGTGAGCTCAGACAGGAGACCAACAG | ACTTTTGGAACACCTAGTTGAAAAAGAGAGAGAG c.3600
G E L R Q E T N R | L L E H L V E K E R E p.1200
. . . . . . g.152505
TACCAGAATCTTCTGCGGCAAACTCTAGAACAGAAAACTCAAGAATTGTATCACCTTCAG c.3660
Y Q N L L R Q T L E Q K T Q E L Y H L Q p.1220
. | 27 . . . . g.153709
TTAAAATTAAAATCGAATT | GTATTACAGAGAACCCAGCAGGCCCCTACGGGCAGAGAACA c.3720
L K L K S N C | I T E N P A G P Y G Q R T p.1240
. . . . . . g.153769
GATAAAGAGCTTATAGACTGGTTGCGGCTGCAAGGAGCTGATGCAAAGACAATTGAAAAG c.3780
D K E L I D W L R L Q G A D A K T I E K p.1260
| 28 . . . . . . g.153906
| ATTGTTGAAGAGGGTTATACACTTTCGGATATTCTTAATGAGATCACTAAGGAAGATCTA c.3840
| I V E E G Y T L S D I L N E I T K E D L p.1280
. | 29. . . . . g.154471
AGATACCTTCGACTACG | GGGTGGTCTCCTCTGCAGACTCTGGAGTGCGGTCTCCCAGTAC c.3900
R Y L R L R | G G L L C R L W S A V S Q Y p.1300
. . . . g.154513
AGAAGGGCTCAGGAGGCCTCAGAAACCAAAGACAAGGCTTGA c.3942
R R A Q E A S E T K D K A X p.1313
. . . . . . g.154573
taccaatcagctaagctgtggcagagtgtcccaccacgctacatgttttgttaaagcttc c.*60
. . . . . . g.154633
tgttagtgtatacacgaattccgctgtgtttacatatttaaaaatgccattgttcaatta c.*120
. . . . . . g.154693
atagtttaagaacttgttttaaatactgtcctgagtttcttttgaaacctgttatttata c.*180
. . . . . . g.154753
aacatagaactgtgtgtattgtgaaaacagtgagccttggttttgacctcccggaatatt c.*240
. . . . . . g.154813
aggaaattcacttgtagtcccagctatgcaggaggctgaggtgggaggattgcttgagcc c.*300
. . . . . . g.154873
caggaggtgtggaggctgcagtgagccatgatcacaccactgcactccagcctgggcaac c.*360
. . . . . . g.154933
agagcccgaccctgtctcaaaaaaagtacacccttcagcacttgctggaatggtgaaaca c.*420
. . . . . . g.154993
aacaaggggtatttaacaaacatggaagctgggacactgcctcagaactggtatggtact c.*480
. . . . . . g.155053
tcaatttgagaaacacaaaactgatacgaatgtgccttgtagttaatgtttgatatgaac c.*540
. . . . . . g.155113
agaaaatagcttcatatttatactgaatgtgtaagtagagaaaactaagttatgtggcct c.*600
. . . . . . g.155173
ttgaaatgattacaaaattggaatgattacaaaagtcttattttaaaatggaactgtcct c.*660
. . . g.155204
cttgcctgataataaatattgtatcttgtag c.*691
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center