(used for variant description)
(last modified May 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_016653.2 in the MAP3K20 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029373.1, covering MAP3K20 transcript NM_016653.2.
(upstream sequence)
. . g.5020
actgtcttcctcattggcgc c.-181
. . . . . . g.5080
cgtgcagagaggcggaatgttcaactcctaactgcggcggaaacgtgggagccgcgcggg c.-121
. . . . . . g.5140
ccgctgtcgtcccaacccccgccgccctcgtcgcgcgcggggcctccgcgcccccggctg c.-61
. . . | 02 . . . g.20195
ctgctcacgccccgcccgggagccag | attttgtggaagtataatactttgtcattatgag c.-1
. . . . . . g.20255
ATGTCGTCTCTCGGTGCCTCCTTTGTGCAAATTAAATTTGATGACTTGCAGTTTTTTGAA c.60
M S S L G A S F V Q I K F D D L Q F F E p.20
. . . . . . g.20315
AACTGCGGTGGAGGAAGTTTTGGGAGTGTTTATCGAGCCAAATGGATATCACAGGACAAG c.120
N C G G G S F G S V Y R A K W I S Q D K p.40
. . . | 03 . . g.98989
GAGGTGGCTGTAAAGAAGCTCCTCAAAATAGAGAAAGAG | GCAGAAATACTCAGTGTCCTC c.180
E V A V K K L L K I E K E | A E I L S V L p.60
. . . . . . g.99049
AGTCACAGAAACATCATCCAGTTTTATGGAGTAATTCTTGAACCTCCCAACTATGGCATT c.240
S H R N I I Q F Y G V I L E P P N Y G I p.80
| 04. . . . . . g.112070
GTCACAG | AATATGCTTCTCTGGGATCACTCTATGATTACATTAACAGTAACAGAAGTGAG c.300
V T E | Y A S L G S L Y D Y I N S N R S E p.100
. . . . | 05 . g.116732
GAGATGGATATGGATCACATTATGACCTGGGCCACTGATGTAGCCAAAG | GAATGCATTAT c.360
E M D M D H I M T W A T D V A K G | M H Y p.120
. . . . . | 06 . g.120063
TTACATATGGAGGCTCCTGTCAAGGTGATTCACAGAGACCTCAAGTCAAGAAACG | TTGTT c.420
L H M E A P V K V I H R D L K S R N V | V p.140
. . | 07 . . . . g.120239
ATAGCTGCTGATGGAGTATTGAAG | ATCTGTGACTTTGGTGCCTCTCGGTTCCATAACCAT c.480
I A A D G V L K | I C D F G A S R F H N H p.160
. . . . . . g.120299
ACAACACACATGTCCTTGGTTGGAACTTTCCCATGGATGGCTCCAGAAGTTATCCAGAGT c.540
T T H M S L V G T F P W M A P E V I Q S p.180
. . . . | 08 . . g.127207
CTCCCTGTGTCAGAAACTTGTGACACATATTCCTATGGTGTG | GTTCTCTGGGAGATGCTA c.600
L P V S E T C D T Y S Y G V | V L W E M L p.200
. . . . . . g.127267
ACAAGGGAGGTCCCCTTTAAAGGTTTGGAAGGATTACAAGTAGCTTGGCTTGTAGTGGAA c.660
T R E V P F K G L E G L Q V A W L V V E p.220
| 09 . . . . . g.133010
AAAAACGAG | AGATTAACCATTCCAAGCAGTTGCCCCAGAAGTTTTGCTGAACTGTTACAT c.720
K N E | R L T I P S S C P R S F A E L L H p.240
. . | 10 . . . . g.138928
CAGTGTTGGGAAGCTGATGCCAAG | AAACGGCCATCATTCAAGCAAATCATTTCAATCCTG c.780
Q C W E A D A K | K R P S F K Q I I S I L p.260
. . . . . . g.138988
GAGTCCATGTCAAATGACACGAGCCTTCCTGACAAGTGTAACTCATTCCTACACAACAAG c.840
E S M S N D T S L P D K C N S F L H N K p.280
. | 11 . . . . . g.146327
GCGGAGTGGAG | GTGCGAAATTGAGGCAACTCTTGAGAGGCTAAAGAAACTAGAGCGTGAT c.900
A E W R | C E I E A T L E R L K K L E R D p.300
. . . . . . g.146387
CTCAGCTTTAAGGAGCAGGAGCTTAAAGAACGAGAAAGACGTTTAAAGATGTGGGAGCAA c.960
L S F K E Q E L K E R E R R L K M W E Q p.320
. . | 12. . . . g.158885
AAGCTGACAGAGCAGTCCAACACCCCG | CTGCTGCCTTCCTTTGAGATTGGTGCATGGACG c.1020
K L T E Q S N T P | L L P S F E I G A W T p.340
. | 13 . . . | 14 . . g.161500
GAAGACGATGTG | TATTGTTGGGTTCAGCAGCTCGTCAGAAAAG | GTGACTCTTCAGCAGAG c.1080
E D D V | Y C W V Q Q L V R K G | D S S A E p.360
. . . . . . g.161560
ATGAGTGTATATGCAAGCTTGTTTAAAGAAAACAACATTACAGGGAAGCGGCTGCTGCTG c.1140
M S V Y A S L F K E N N I T G K R L L L p.380
. . . . . . g.161620
CTGGAGGAAGAAGACCTGAAAGACATGGGCATTGTCTCCAAGGGGCATATCATTCACTTC c.1200
L E E E D L K D M G I V S K G H I I H F p.400
| 15 . . . . . . g.167593
AAG | TCAGCCATTGAGAAATTAACCCATGATTACATAAATTTGTTTCACTTCCCACCACTA c.1260
K | S A I E K L T H D Y I N L F H F P P L p.420
| 16 . . . . . . g.168621
ATTAAG | GACTCAGGAGGTGAACCTGAAGAAAATGAGGAAAAAATAGTGAACCTGGAACTG c.1320
I K | D S G G E P E E N E E K I V N L E L p.440
. . . | 17 . . g.187883
GTTTTTGGTTTTCACTTGAAACCAGGAACTGGCCCACAG | GATTGTAAGTGGAAAATGTAT c.1380
V F G F H L K P G T G P Q | D C K W K M Y p.460
. . . . . . g.187943
ATGGAGATGGATGGGGATGAAATTGCAATAACCTACATAAAAGATGTGACATTCAACACT c.1440
M E M D G D E I A I T Y I K D V T F N T p.480
. . . | 18 . . . g.190250
AACCTACCTGATGCGGAGATTTTAAAGATGACAAAG | CCACCATTTGTAATGGAGAAGTGG c.1500
N L P D A E I L K M T K | P P F V M E K W p.500
. . . . . | 19 . g.192917
ATTGTAGGAATAGCAAAAAGTCAGACTGTGGAGTGCACTGTCACATATGAG | AGTGATGTT c.1560
I V G I A K S Q T V E C T V T Y E | S D V p.520
. . . . . . g.192977
AGAACTCCAAAAAGCACTAAACATGTCCATTCGATTCAGTGGAGTAGAACAAAACCTCAG c.1620
R T P K S T K H V H S I Q W S R T K P Q p.540
. . . . . . g.193037
GATGAAGTGAAAGCAGTCCAACTTGCCATTCAGACATTATTCACCAATTCAGATGGCAAC c.1680
D E V K A V Q L A I Q T L F T N S D G N p.560
. . | 20 . . . . g.195251
CCTGGAAGCAGGTCCGACTCAA | GTGCTGATTGCCAGTGGTTAGATACTCTGAGGATGCGG c.1740
P G S R S D S S | A D C Q W L D T L R M R p.580
. . . . . . g.195311
CAGATTGCATCCAACACTTCTTTACAGCGTTCCCAGAGCAATCCTATTCTGGGGTCACCG c.1800
Q I A S N T S L Q R S Q S N P I L G S P p.600
. . . . . . g.195371
TTCTTCTCACACTTTGATGGCCAGGATTCCTACGCTGCTGCTGTGAGACGGCCCCAGGTG c.1860
F F S H F D G Q D S Y A A A V R R P Q V p.620
. . . . . . g.195431
CCCATTAAGTATCAACAGATTACACCTGTGAACCAGTCCAGAAGCTCGTCTCCTACTCAG c.1920
P I K Y Q Q I T P V N Q S R S S S P T Q p.640
. . . . . . g.195491
TATGGACTGACCAAAAACTTCTCTTCCCTACATCTCAACTCTAGGGACAGTGGCTTTTCC c.1980
Y G L T K N F S S L H L N S R D S G F S p.660
. . . . . . g.195551
AGTGGCAATACTGACACCTCTTCAGAGAGGGGTCGATACTCAGACAGAAGCAGGAACAAA c.2040
S G N T D T S S E R G R Y S D R S R N K p.680
. . . . . . g.195611
TATGGACGTGGTAGTATATCACTCAATTCTTCTCCTAGAGGAAGATACAGTGGAAAGAGT c.2100
Y G R G S I S L N S S P R G R Y S G K S p.700
. . . . . . g.195671
CAGCATTCCACTCCTTCAAGAGGAAGATACCCTGGAAAGTTCTACAGGGTTTCTCAGTCA c.2160
Q H S T P S R G R Y P G K F Y R V S Q S p.720
. . . . . . g.195731
GCACTCAATCCTCACCAGTCGCCTGACTTCAAGAGAAGCCCCAGGGACCTCCACCAACCC c.2220
A L N P H Q S P D F K R S P R D L H Q P p.740
. . . . . . g.195791
AACACCATACCAGGGATGCCTTTGCACCCTGAGACTGACTCAAGAGCCAGTGAAGAGGAC c.2280
N T I P G M P L H P E T D S R A S E E D p.760
. . . . . . g.195851
AGCAAAGTCAGCGAAGGGGGCTGGACAAAAGTGGAATACCGGAAAAAGCCCCACAGGCCA c.2340
S K V S E G G W T K V E Y R K K P H R P p.780
. . . . . . g.195911
TCTCCCGCCAAAACCAATAAAGAGAGAGCCAGAGGGGACCACCGTGGATGGAGAAACTTT c.2400
S P A K T N K E R A R G D H R G W R N F p.800
g.195914
TGA c.2403
X p.800
. . . . . . g.195974
tgaattgaactacatagcttttctaagcaggttaaaaaaaaaaaaaaaaagaaatgtaat c.*60
. . . . . . g.196034
ggtttttgataatatgatcccttcagattgaattaacgaaaagacaacacttccagtttt c.*120
. . . . . . g.196094
tggattgggaaataccttctaattgagactatagccaaaccagggccaaaattatggata c.*180
. . . . . . g.196154
ttggtcacccagtgatcataactaggcttgaaaatcactacacatattttctgccttgag c.*240
. . . . . . g.196214
tgaacatttttagaggaaaggttatgccatctttttaccctaaccactgatattctggtt c.*300
. . . . . . g.196274
agcagggccaggacaaggggaaggaaaatgaggtcaacaaaaaaatcaaatttttaggaa c.*360
. . . . . . g.196334
aagataagatgaatgttactgatttttccttttggctgaggctgcaatatggcctggcaa c.*420
. . . . . . g.196394
ggcactgttactgatcttgtctttaacattttgatattttgttcatcataatttttgcat c.*480
. . . . . . g.196454
ttatttttttaaatattgcattaaaatatcatttagcttgattatcgagttttttggttt c.*540
. . . . . . g.196514
gaggttttttgttgcttcttttttcttttctttctttccccctcttttttttggatgtcc c.*600
. . . . . . g.196574
ccttaaattttgtgcccaaggcaggtacctcactcatctcatccttggctcagccctgct c.*660
. . . . . . g.196634
ggttagtatttagtatttattttagtaagatatttgtgtctgtatgatggtcagagttga c.*720
. . . . . . g.196694
actgatctggcttgtcatttttcagtaataaaaaaagttactgaatttaatgttgaatat c.*780
. . . . . . g.196754
gatgcatatctcattcattacgatttatcagaaaccaaagatttaaattgcctagatttg c.*840
. . . . . . g.196814
tggttctttctcttcctaagttcccagcgactgctttcaaatactattttctaaatttca c.*900
. . . . . . g.196874
ccaaaggagcaaagaggataaaacaacactccataaaggcctcttgggatgtcagaaatc c.*960
. . . . . . g.196934
taaaatctaaaagaaaacagacacagagcaagacaataacatcacaagctaaaagccaga c.*1020
. . . . . . g.196994
gaaatttaaaattaccaacatccttgttggagtaagacagtaaatatcagccttgcagca c.*1080
. . . . . . g.197054
agacagctctgagcagctgtgggcaaagaggtaaaccagtgggggtgcaaggagactgtc c.*1140
. . . . . . g.197114
tgcagcttagggcagaaatggtgggatccaacttgtgaaatgcttcatgttttacaaacc c.*1200
. . . . . g.197173
aaaaagtcaggtagcaacaaacttattgtatgtcaaatcaataaatgttactttcaata c.*1259
(downstream sequence)
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