(used for variant description)
(last modified January 11, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_015133.3 in the MAPK8IP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering MAPK8IP3 transcript NM_015133.3.
(upstream sequence)
. . . . . . g.5060
ccctgaggcgacagcagctgcgggaggcgacgggctgcggcctgcggaacctgaggcagc c.-61
. . . . . . g.5120
tggggagggccgggcgcgccggccggatagcgagccgcgctggcggcggcggtggccgcg c.-1
. . . . . . g.5180
ATGATGGAGATCCAGATGGACGAGGGCGGCGGCGTGGTGGTGTACCAGGACGACTACTGC c.60
M M E I Q M D E G G G V V V Y Q D D Y C p.20
. . . . . . g.5240
TCCGGCTCGGTGATGTCGGAGCGGGTGTCGGGCCTGGCGGGCTCCATCTACCGCGAGTTC c.120
S G S V M S E R V S G L A G S I Y R E F p.40
. . . . . . g.5300
GAGCGCCTCATCCACTGCTACGACGAGGAGGTGGTCAAGGAGCTCATGCCGCTGGTGGTG c.180
E R L I H C Y D E E V V K E L M P L V V p.60
. . . . . . g.5360
AACGTGCTGGAGAACCTAGACTCGGTGCTCAGCGAGAACCAGGAGCACGAGGTGGAGCTG c.240
N V L E N L D S V L S E N Q E H E V E L p.80
. . . . . . g.5420
GAGCTGCTGCGCGAGGACAACGAGCAGCTGCTCACCCAGTACGAGCGTGAGAAGGCGCTG c.300
E L L R E D N E Q L L T Q Y E R E K A L p.100
. | 02 . . . . g.23379
CGCAGGCAGGCGGAGGAG | AAATTCATTGAGTTTGAAGATGCTCTGGAACAAGAGAAGAAA c.360
R R Q A E E | K F I E F E D A L E Q E K K p.120
. . . . . . g.23439
GAGCTGCAAATCCAGGTGGAGCACTACGAGTTCCAGACGCGCCAGCTGGAGCTGAAGGCC c.420
E L Q I Q V E H Y E F Q T R Q L E L K A p.140
. | 03 . . . . g.27959
AAGAACTATGCCGATCAGA | TTTCCCGGTTGGAGGAGCGGGAGTCGGAGATGAAGAAGGAG c.480
K N Y A D Q I | S R L E E R E S E M K K E p.160
. . . | 04 . . . g.28297
TACAATGCCCTGCACCAGCGGCACACAGAG | ATGATACAGACCTACGTGGAGCACATTGAG c.540
Y N A L H Q R H T E | M I Q T Y V E H I E p.180
. . . . . . g.28357
AGGTCCAAGATGCAGCAGGTCGGAGGAAACAGCCAGACCGAGAGCAGCCTGCCGGGGCGG c.600
R S K M Q Q V G G N S Q T E S S L P G R p.200
| 05 . . . . . . g.42173
AG | GAAGGAGCGCCCCACCTCCCTGAACGTGTTCCCCCTGGCTGACGGCACGGTACGTGCA c.660
R | K E R P T S L N V F P L A D G T V R A p.220
. . . . . . g.42233
CAGATCGGGGGCAAGCTCGTGCCTGCGGGGGACCACTGGCACCTGAGTGACCTCGGCCAG c.720
Q I G G K L V P A G D H W H L S D L G Q p.240
. . | 06 . . . . g.45845
CTGCAGTCCAGCTCCAGCTACCAG | TGTCCACAGGATGAAATGTCCGAGTCAGGCCAGTCC c.780
L Q S S S S Y Q | C P Q D E M S E S G Q S p.260
. . . . . . g.45905
TCGGCGGCCGCCACACCCAGCACCACAGGCACCAAGTCCAACACGCCCACATCCTCCGTG c.840
S A A A T P S T T G T K S N T P T S S V p.280
. . . . . . g.45965
CCCTCGGCCGCCGTCACACCCCTCAACGAGAGCCTGCAGCCCCTGGGGGACTATGGCGTG c.900
P S A A V T P L N E S L Q P L G D Y G V p.300
. . . . . . g.46025
GGCTCCAAGAACAGCAAGCGTGCCCGGGAGAAGCGCGACAGCCGCAACATGGAAGTACAG c.960
G S K N S K R A R E K R D S R N M E V Q p.320
. . . | 07 . . . g.47053
GTCACCCAGGAGATGCGCAACGTCAGTATAG | GCATGGGCAGCAGTGACGAGTGGTCTGAT c.1020
V T Q E M R N V S I G | M G S S D E W S D p.340
. . . . . . g.47113
GTTCAAGACATTATTGACTCCACGCCAGAGCTGGACATGTGTCCAGAGACCCGCCTGGAC c.1080
V Q D I I D S T P E L D M C P E T R L D p.360
. | 08 . . . . . g.47428
CGCACAGGAAGCAG | CCCAACCCAGGGCATCGTGAACAAAGCTTTCGGCATCAACACCGAC c.1140
R T G S S | P T Q G I V N K A F G I N T D p.380
. . . . . . g.47488
TCCCTGTACCATGAGCTGTCGACGGCAGGGTCTGAGGTCATCGGGGATGTGGACGAAGGG c.1200
S L Y H E L S T A G S E V I G D V D E G p.400
. | 09 . | 10 . . | 11 . . g.58755
GCCGACCTCCTAG | GGGAGTTCTCAG | TGCGCGATGATTTCTTTG | GAATGGGCAAAGAAGTG c.1260
A D L L G | E F S V | R D D F F G | M G K E V p.420
. . . . | 12 . . g.59179
GGGAATCTGCTACTGGAAAACTCACAGCTTCTGGAAACCAA | AAACGCCTTGAATGTGGTG c.1320
G N L L L E N S Q L L E T K | N A L N V V p.440
. . . . . . g.59239
AAGAATGACCTGATTGCCAAGGTCGACCAGCTGTCCGGGGAGCAGGAGGTGCTGAGGGGC c.1380
K N D L I A K V D Q L S G E Q E V L R G p.460
. . . . . . g.59299
GAGTTGGAGGCTGCTAAGCAGGCCAAAGTCAAGCTGGAAAACCGTATCAAGGAGCTGGAA c.1440
E L E A A K Q A K V K L E N R I K E L E p.480
. | 13 . . . . . g.60050
GAGGAACTGAAAAG | AGTGAAGTCCGAGGCCATCATCGCCCGCCGTGAACCCAAAGAAGAG c.1500
E E L K R | V K S E A I I A R R E P K E E p.500
. . . | 14 . . . g.61155
GCGGAGGATGTAAGCAGCTATCTCTGTACAGAATCG | GACAAAATCCCCATGGCCCAGCGC c.1560
A E D V S S Y L C T E S | D K I P M A Q R p.520
. . . . . . g.61215
CGCCGCTTCACGCGGGTGGAGATGGCCCGTGTGCTCATGGAGCGGAACCAGTACAAGGAG c.1620
R R F T R V E M A R V L M E R N Q Y K E p.540
. . . . | 15. . g.61468
CGGCTGATGGAGCTGCAGGAGGCTGTGCGGTGGACTGAGATGATCAG | AGCGTCCCGAGAG c.1680
R L M E L Q E A V R W T E M I R | A S R E p.560
. . . . | 16 . . g.61632
CACCCATCCGTCCAGGAGAAGAAGAAGTCGACCATCTGGCAGTT | CTTCAGCCGCCTCTTC c.1740
H P S V Q E K K K S T I W Q F | F S R L F p.580
. . . . . . g.61692
AGCTCTTCCTCCAGCCCCCCTCCGGCCAAGCGCCCCTATCCCTCGGTGAACATCCACTAC c.1800
S S S S S P P P A K R P Y P S V N I H Y p.600
. . . . . . g.61752
AAGTCACCCACCACTGCCGGCTTCAGCCAGCGCCGCAACCATGCCATGTGCCCGATCTCG c.1860
K S P T T A G F S Q R R N H A M C P I S p.620
. . . | 17 . . . g.62462
GCAGGCAGCCGGCCCCTGGAATTCTTCCCTGACGA | CGACTGCACGTCCTCCGCCCGTCGA c.1920
A G S R P L E F F P D D | D C T S S A R R p.640
. . . . . . g.62522
GAGCAGAAGCGCGAGCAGTACCGCCAGGTGCGTGAGCACGTGCGTAACGACGACGGCCGT c.1980
E Q K R E Q Y R Q V R E H V R N D D G R p.660
. . . . | 18 . . g.62913
CTGCAGGCCTGCGGCTGGAGCCTGCCCGCCAAGTACAAGCAG | CTGAGTCCCAACGGGGGC c.2040
L Q A C G W S L P A K Y K Q | L S P N G G p.680
. . . . . . g.62973
CAGGAGGACACGCGGATGAAGAACGTGCCGGTGCCGGTGTACTGCCGCCCTCTGGTGGAG c.2100
Q E D T R M K N V P V P V Y C R P L V E p.700
. | 19 . . . . g.63123
AAGGACCCCACCATGAAG | CTGTGGTGTGCCGCGGGCGTCAACCTGAGCGGGTGGAGGCCC c.2160
K D P T M K | L W C A A G V N L S G W R P p.720
. . . . . . g.63183
AATGAGGACGACGCTGGGAATGGAGTCAAGCCAGCGCCAGGCCGCGATCCCCTGACCTGC c.2220
N E D D A G N G V K P A P G R D P L T C p.740
. . . . . | 20. g.63796
GACCGCGAAGGAGACGGCGAGCCCAAGAGCGCCCACACGTCTCCCGAGAAGAAGAAG | GCC c.2280
D R E G D G E P K S A H T S P E K K K | A p.760
. . . . . . g.63856
AAGGAGCTCCCTGAAATGGACGCCACCTCCAGCCGGGTGTGGATCCTGACCAGCACCCTG c.2340
K E L P E M D A T S S R V W I L T S T L p.780
. . . . . . g.63916
ACCACCAGCAAGGTGGTGATCATCGACGCCAACCAGCCGGGCACGGTGGTGGACCAGTTC c.2400
T T S K V V I I D A N Q P G T V V D Q F p.800
. . . . | 21 . . g.64757
ACCGTCTGCAACGCGCACGTGCTGTGCATCTCCAGCATCCCCG | CGGCCAGCGACAGCGAC c.2460
T V C N A H V L C I S S I P A | A S D S D p.820
. . . . . . g.64817
TACCCTCCCGGGGAGATGTTCCTGGACAGCGACGTGAACCCAGAGGACCCGGGCGCAGAT c.2520
Y P P G E M F L D S D V N P E D P G A D p.840
. . . . . . g.64877
GGCGTGCTGGCCGGTATCACCCTGGTGGGCTGTGCCACCCGCTGCAACGTGCCGCGGAGC c.2580
G V L A G I T L V G C A T R C N V P R S p.860
. . . . | 22 . . g.65014
AACTGCTCCTCCCGAGGGGACACCCCAGTGCTAGACAAGGGGCAGG | GGGAGGTGGCCACC c.2640
N C S S R G D T P V L D K G Q G | E V A T p.880
. . . . . . g.65074
ATCGCCAACGGGAAGGTCAACCCGTCCCAGTCCACAGAGGAGGCCACAGAGGCCACGGAG c.2700
I A N G K V N P S Q S T E E A T E A T E p.900
. . . . . . g.65134
GTGCCAGACCCTGGGCCCAGCGAGCCAGAGACAGCCACATTGCGGCCCGGGCCTCTCACA c.2760
V P D P G P S E P E T A T L R P G P L T p.920
. . . . . | 23 . g.65313
GAGCACGTCTTCACTGACCCAGCCCCGACCCCGTCCTCTGGCCCCCAGCCTGGCAG | CGAG c.2820
E H V F T D P A P T P S S G P Q P G S | E p.940
. . . . . . g.65373
AACGGGCCAGAGCCTGACAGCAGCAGCACACGGCCAGAGCCAGAGCCCAGCGGGGACCCC c.2880
N G P E P D S S S T R P E P E P S G D P p.960
. . . . . | 24 . g.65507
ACGGGAGCAGGCAGCAGTGCTGCACCCACCATGTGGCTGGGAGCCCAGAACGGCTG | GCTC c.2940
T G A G S S A A P T M W L G A Q N G W | L p.980
. . . . . . g.65567
TATGTGCACTCGGCTGTGGCCAACTGGAAGAAGTGCCTGCACTCCATCAAGCTGAAGGAT c.3000
Y V H S A V A N W K K C L H S I K L K D p.1000
. | 25. . . . . g.65727
TCTGTGCTGAGCCTGGT | GCATGTCAAAGGCCGTGTGCTGGTGGCTCTGGCGGACGGGACC c.3060
S V L S L V | H V K G R V L V A L A D G T p.1020
. . | 26 . . . . g.65964
CTGGCCATCTTCCACCGTGGTGAAG | ATGGCCAGTGGGATCTGAGCAACTATCACCTAATG c.3120
L A I F H R G E D | G Q W D L S N Y H L M p.1040
. . . . . . g.66024
GACCTGGGCCACCCGCACCACTCCATCCGCTGCATGGCTGTTGTGTACGACCGCGTGTGG c.3180
D L G H P H H S I R C M A V V Y D R V W p.1060
. . . . . | 27 . g.66350
TGTGGCTACAAGAACAAGGTGCACGTCATCCAGCCCAAGACCATGCAGATAGAG | AAGTCA c.3240
C G Y K N K V H V I Q P K T M Q I E | K S p.1080
. . . . . . g.66410
TTTGACGCCCACCCGCGGCGGGAGAGCCAGGTGCGGCAGCTGGCGTGGATCGGCGATGGC c.3300
F D A H P R R E S Q V R Q L A W I G D G p.1100
. . . . . . g.66470
GTATGGGTGTCCATCCGCCTGGACTCCACCCTGAGGCTCTACCATGCACACACGCACCAG c.3360
V W V S I R L D S T L R L Y H A H T H Q p.1120
. . . . | 28 . . g.66599
CATCTACAGGACGTGGACATTGAGCCCTACGTCAGCAAGATGCTAG | GCACTGGCAAGCTG c.3420
H L Q D V D I E P Y V S K M L G | T G K L p.1140
. . . . . . g.66659
GGTTTCTCCTTCGTACGCATCACGGCCCTGCTTGTCGCGGGCAGCCGGCTCTGGGTGGGC c.3480
G F S F V R I T A L L V A G S R L W V G p.1160
. . . . | 29 . . g.66869
ACCGGCAACGGAGTGGTCATCTCCATCCCCCTGACAGAGA | CTGTGGTCCTGCACCGAGGC c.3540
T G N G V V I S I P L T E T | V V L H R G p.1180
. | 30 . . . . g.67020
CAGCTCCTGGGGCTCCGAG | CCAATAAGACATCCCCCACCTCTGGGGAGGGCGCCCGTCCC c.3600
Q L L G L R A | N K T S P T S G E G A R P p.1200
. . . . . . g.67080
GGGGGCATCATCCACGTGTATGGCGATGACAGCAGTGACAGGGCGGCCAGCAGCTTCATC c.3660
G G I I H V Y G D D S S D R A A S S F I p.1220
. . . . . . g.67140
CCCTACTGCTCCATGGCCCAGGCCCAGCTATGCTTCCATGGGCACCGCGATGCCGTGAAG c.3720
P Y C S M A Q A Q L C F H G H R D A V K p.1240
. | 31 . . . . g.67298
TTCTTTGTCTCGGTGCCAG | GGAACGTGCTGGCCACCCTGAATGGGAGTGTGCTGGACAGC c.3780
F F V S V P G | N V L A T L N G S V L D S p.1260
. . . . . . g.67358
CCAGCCGAGGGCCCTGGGCCAGCTGCCCCTGCCTCGGAGGTCGAGGGCCAGAAGCTGCGG c.3840
P A E G P G P A A P A S E V E G Q K L R p.1280
. . . . | 32 . g.67494
AACGTGCTGGTGCTGAGCGGCGGGGAGGGCTACATCGACTTCCGCATTG | GAGACGGAGAG c.3900
N V L V L S G G E G Y I D F R I G | D G E p.1300
. . . . . . g.67554
GACGACGAGACGGAGGAGGGCGCAGGGGACATGAGCCAGGTGAAGCCCGTGCTGTCCAAG c.3960
D D E T E E G A G D M S Q V K P V L S K p.1320
. . . . . g.67605
GCAGAGCGCAGTCACATCATCGTGTGGCAGGTGTCCTACACCCCCGAGTGA c.4011
A E R S H I I V W Q V S Y T P E X p.1336
. . . . . . g.67665
agctgctgccctgcctggcccgacctgtacataggacccccgaccacctgacccccgccc c.*60
. . . . . . g.67725
ggcccgcggggtagccagccaggcgccgccgcccctcttctaacctctcaacctgcagct c.*120
. . . . . . g.67785
ttcacctgagtctggcccctccagcgggcagggagtgcggggatgcggatcagctgggag c.*180
. . . . . . g.67845
gaggaggggaggggaacttccacccgaggggaagatgctctcgggacagtttcccgggca c.*240
. . . . . . g.67905
gctcctggccagcttccagcccagagtcctcaagtccagggcaccttgggcccagcgcag c.*300
. . . . . . g.67965
gcagaatccgaggtggtcctggctctaccctgggcctcctactccccagcacccctggag c.*360
. . . . . . g.68025
gaggcaggggctccccgccgccgaggctgcctgccctgggcccacctctgcatgctgctc c.*420
. . . . . . g.68085
atggggccaccctgcctcctgggccctcactctgcctaggggagctgggccaggcactag c.*480
. . . . . . g.68145
cctttgcccagggaggtgggcctcaggctgcccaggtgcctgcaccccagccggccttct c.*540
. . . . . . g.68205
ctggggcctccccgtcgtcaagcctctatcctgtctgtccccaccccagctgtcccctgc c.*600
. . . . . . g.68265
ccagggagctggcataaaagcacgaggcccggctccctggggcagctgcttgagaacaga c.*660
. . . . . . g.68325
gactgctaccccatcctgcccatgcaggcaggctcttgccagccccgttctgacccgtgt c.*720
. . . . . . g.68385
ccccccaggctctgcctgggcagaagactcaccttggaggagtgggccctggagtcctgt c.*780
. . . . . . g.68445
ccctcccagaagcccccagggtgggatttctcaggctgccagggcaggcccaggcctcag c.*840
. . . . . . g.68505
gaagaaggggaggcccctggcctctccgggatcagtcctaggacacaggctcagcctcag c.*900
. . . . . . g.68565
gttgatgggggatgatgtgctcccggggcctgcctcctgcacggggctccacggagccca c.*960
. . . . . . g.68625
gctcccagacacgctactaagtgcctagggttgcccgctgtggcctgcttccagggagca c.*1020
. . . . . . g.68685
acagagaggccaccaagcagaggcccgtggggctgaggatggagccgcccccagccgact c.*1080
. . . . . . g.68745
ccaagcccgcagagggcagacgccaccctggactgctctccctgcccagctgggcctctc c.*1140
. . . . . . g.68805
tggcctattcctaccttccaggcccactgcactcctgtctgggaggcccttatgagggca c.*1200
. . . . . . g.68865
gcccagcccccgcacccacccccaaccagagaagcacagatcttggggagctgccccaca c.*1260
. . . . . . g.68925
agccccgctggccaccgagggctgcagccgctgcgctgccggcttctccccaccaccctg c.*1320
. . . . . . g.68985
ccacctccactgtgatgtatgtccgctccctcgtctgttcccccaggatctcgaagtgac c.*1380
. . . . . . g.69045
tccgggctgagcagtggggcggctgggggaggggtgacgattctcctcaggctttggccc c.*1440
. . . . . g.69098
tgcaagcaaacccacatatctgctctgtatgtaataaatgtcttaacgtcgta c.*1493
(downstream sequence)
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