(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the ADAMTS13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering ADAMTS13 transcript NM_139025.4.
(upstream sequence)
. . g.8685
aaccacgatgtctttggcacagcc c.-421
. . . . . . g.8745
tctcatctgtcagatgggagcggggaccccggagagggagtcagccgaggtcctggcatt c.-361
. . . . . . g.8805
ccttgtgaacccccgtctgtgggtttctggtccagtgtcccttctccagattagatggct c.-301
. . . . . . g.8865
taggcctcctctaagggggtgggcgtgcacatccggagagctgtctggtgtgcaggactg c.-241
. . . . . . g.8925
ggctgcaggttaccctgaactgcaaccatcttagagcaaggcccagcttgcagcaggagg c.-181
. . . . . . g.8985
agctgcaggccgcccaccctagccacggcccctgccctggcaggaagcttccaagagtaa c.-121
. . . . . . g.9045
acactgcctaatcgtcccgcccagtagtgagcaggcctgtcccattccatactgaccaga c.-61
. . . . . . g.9105
ttcccagtcaccaaggccccctctcactccgctccactcctcgggctggctctcctgagg c.-1
. . . . . . g.9165
ATGCACCAGCGTCACCCCCGGGCAAGATGCCCTCCCCTCTGTGTGGCCGGAATCCTTGCC c.60
M H Q R H P R A R C P P L C V A G I L A p.20
. . . . | 02 . . g.9777
TGTGGCTTTCTCCTGGGCTGCTGGGGACCCTCCCATTTCCAGCAG | AGTTGTCTTCAGGCT c.120
C G F L L G C W G P S H F Q Q | S C L Q A p.40
. . . . . | 03 . g.10990
TTGGAGCCACAGGCCGTGTCTTCTTACTTGAGCCCTGGTGCTCCCTTAAAAG | GCCGCCCT c.180
L E P Q A V S S Y L S P G A P L K G | R P p.60
. . . . . . g.11050
CCTTCCCCTGGCTTCCAGAGGCAGAGGCAGAGGCAGAGGCGGGCTGCAGGCGGCATCCTA c.240
P S P G F Q R Q R Q R Q R R A A G G I L p.80
. . . . . . g.11110
CACCTGGAGCTGCTGGTGGCCGTGGGCCCCGATGTCTTCCAGGCTCACCAGGAGGACACA c.300
H L E L L V A V G P D V F Q A H Q E D T p.100
. . . | 04 . . . g.12220
GAGCGCTATGTGCTCACCAACCTCAACATC | GGGGCAGAACTGCTTCGGGACCCGTCCCTG c.360
E R Y V L T N L N I | G A E L L R D P S L p.120
. . . . . | 05 . g.12605
GGGGCTCAGTTTCGGGTGCACCTGGTGAAGATGGTCATTCTGACAGAGCCTGAG | GGTGCC c.420
G A Q F R V H L V K M V I L T E P E | G A p.140
. . . . . . g.12665
CCAAATATCACAGCCAACCTCACCTCGTCCCTGCTGAGCGTCTGTGGGTGGAGCCAGACC c.480
P N I T A N L T S S L L S V C G W S Q T p.160
. . . . . | 06 g.12861
ATCAACCCTGAGGACGACACGGATCCTGGCCATGCTGACCTGGTCCTCTATATCACTAG | G c.540
I N P E D D T D P G H A D L V L Y I T R | p.180
. . . . . . g.12921
TTTGACCTGGAGTTGCCTGATGGTAACCGGCAGGTGCGGGGCGTCACCCAGCTGGGCGGT c.600
F D L E L P D G N R Q V R G V T Q L G G p.200
. . . . . . g.12981
GCCTGCTCCCCAACCTGGAGCTGCCTCATTACCGAGGACACTGGCTTCGACCTGGGAGTC c.660
A C S P T W S C L I T E D T G F D L G V p.220
. . | 07 . . . . g.15329
ACCATTGCCCATGAGATTGGGCACAG | CTTCGGCCTGGAGCACGACGGCGCGCCCGGCAGC c.720
T I A H E I G H S | F G L E H D G A P G S p.240
. . . . . . g.15389
GGCTGCGGCCCCAGCGGACACGTGATGGCTTCGGACGGCGCCGCGCCCCGCGCCGGCCTC c.780
G C G P S G H V M A S D G A A P R A G L p.260
. . . . | 08 . . g.16616
GCCTGGTCCCCCTGCAGCCGCCGGCAGCTGCTGAGCCTGCTCAG | CGCAGGACGGGCGCGC c.840
A W S P C S R R Q L L S L L S | A G R A R p.280
. . . . . . g.16676
TGCGTGTGGGACCCGCCGCGGCCTCAACCCGGGTCCGCGGGGCACCCGCCGGATGCGCAG c.900
C V W D P P R P Q P G S A G H P P D A Q p.300
. . . . . . g.16736
CCTGGCCTCTACTACAGCGCCAACGAGCAGTGCCGCGTGGCCTTCGGCCCCAAGGCTGTC c.960
P G L Y Y S A N E Q C R V A F G P K A V p.320
. . | 09. . . . g.19283
GCCTGCACCTTCGCCAGGGAGCACCTG | GATATGTGCCAGGCCCTCTCCTGCCACACAGAC c.1020
A C T F A R E H L | D M C Q A L S C H T D p.340
. . . . . . g.19343
CCGCTGGACCAAAGCAGCTGCAGCCGCCTCCTCGTTCCTCTCCTGGATGGGACAGAATGT c.1080
P L D Q S S C S R L L V P L L D G T E C p.360
. | 10 . . . . . g.20087
GGCGTGGAGAAG | TGGTGCTCCAAGGGTCGCTGCCGCTCCCTGGTGGAGCTGACCCCCATA c.1140
G V E K | W C S K G R C R S L V E L T P I p.380
. . . . . . g.20147
GCAGCAGTGCATGGGCGCTGGTCTAGCTGGGGTCCCCGAAGTCCTTGCTCCCGCTCCTGC c.1200
A A V H G R W S S W G P R S P C S R S C p.400
. . . . | 11 . . g.20318
GGAGGAGGTGTGGTCACCAGGAGGCGGCAGTGCAACAACCCCAG | ACCTGCCTTTGGGGGG c.1260
G G G V V T R R R Q C N N P R | P A F G G p.420
. . . . | 12 . g.23502
CGTGCATGTGTTGGTGCTGACCTCCAGGCCGAGATGTGCAACACTCAG | GCCTGCGAGAAG c.1320
R A C V G A D L Q A E M C N T Q | A C E K p.440
. . . . . . g.23562
ACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCC c.1380
T Q L E F M S Q Q C A R T D G Q P L R S p.460
. . . . . | 13 . g.24415
TCCCCTGGCGGCGCCTCCTTCTACCACTGGGGTGCTGCTGTACCACACAGCCAAG | GGGAT c.1440
S P G G A S F Y H W G A A V P H S Q G | D p.480
. . . . . . g.24475
GCTCTGTGCAGACACATGTGCCGGGCCATTGGCGAGAGCTTCATCATGAAGCGTGGAGAC c.1500
A L C R H M C R A I G E S F I M K R G D p.500
. . . . . . g.24535
AGCTTCCTCGATGGGACCCGGTGTATGCCAAGTGGCCCCCGGGAGGACGGGACCCTGAGC c.1560
S F L D G T R C M P S G P R E D G T L S p.520
. . | 14 . . . . g.24943
CTGTGTGTGTCGGGCAGCTGCAGG | ACATTTGGCTGTGATGGTAGGATGGACTCCCAGCAG c.1620
L C V S G S C R | T F G C D G R M D S Q Q p.540
. . . . . . g.25003
GTATGGGACAGGTGCCAGGTGTGTGGTGGGGACAACAGCACGTGCAGCCCACGGAAGGGC c.1680
V W D R C Q V C G G D N S T C S P R K G p.560
. . | 15 . . . . g.26063
TCTTTCACAGCTGGCAGAGCGAGAG | AATATGTCACATTTCTGACAGTTACCCCCAACCTG c.1740
S F T A G R A R E | Y V T F L T V T P N L p.580
. . . . | 16 . . g.27020
ACCAGTGTCTACATTGCCAACCACAGGCCTCTCTTCACACACTTGG | CGGTGAGGATCGGA c.1800
T S V Y I A N H R P L F T H L A | V R I G p.600
. . . . . . g.27080
GGGCGCTATGTCGTGGCTGGGAAGATGAGCATCTCCCCTAACACCACCTACCCCTCCCTC c.1860
G R Y V V A G K M S I S P N T T Y P S L p.620
. . . . . . g.27140
CTGGAGGATGGTCGTGTCGAGTACAGAGTGGCCCTCACCGAGGACCGGCTGCCCCGCCTG c.1920
L E D G R V E Y R V A L T E D R L P R L p.640
. . . . | 17 . g.29073
GAGGAGATCCGCATCTGGGGACCCCTCCAGGAAGATGCTGACATCCAG | GTTTACAGGCGG c.1980
E E I R I W G P L Q E D A D I Q | V Y R R p.660
. . . . . . g.29133
TATGGCGAGGAGTATGGCAACCTCACCCGCCCAGACATCACCTTCACCTACTTCCAGCCT c.2040
Y G E E Y G N L T R P D I T F T Y F Q P p.680
. . . . . . g.29193
AAGCCACGGCAGGCCTGGGTGTGGGCCGCTGTGCGTGGGCCCTGCTCGGTGAGCTGTGGG c.2100
K P R Q A W V W A A V R G P C S V S C G p.700
| 18 . . . . . . g.29332
GCAG | GGCTGCGCTGGGTAAACTACAGCTGCCTGGACCAGGCCAGGAAGGAGTTGGTGGAG c.2160
A G | L R W V N Y S C L D Q A R K E L V E p.720
. . . . . . g.29392
ACTGTCCAGTGCCAAGGGAGCCAGCAGCCACCAGCGTGGCCAGAGGCCTGCGTGCTCGAA c.2220
T V Q C Q G S Q Q P P A W P E A C V L E p.740
. | 19 . . . . . g.30084
CCCTGCCCTCCCTA | CTGGGCGGTGGGAGACTTCGGCCCATGCAGCGCCTCCTGTGGGGGC c.2280
P C P P Y | W A V G D F G P C S A S C G G p.760
. . . . . . g.30144
GGCCTGCGGGAGCGGCCAGTGCGCTGCGTGGAGGCCCAGGGCAGCCTCCTGAAGACATTG c.2340
G L R E R P V R C V E A Q G S L L K T L p.780
. . . . . . g.30204
CCCCCAGCCCGGTGCAGAGCAGGGGCCCAGCAGCCAGCTGTGGCGCTGGAAACCTGCAAC c.2400
P P A R C R A G A Q Q P A V A L E T C N p.800
. . | 20 . . . . g.31565
CCCCAGCCCTGCCCTGCCAG | GTGGGAGGTGTCAGAGCCCAGCTCATGCACATCAGCTGGT c.2460
P Q P C P A R | W E V S E P S S C T S A G p.820
. . . . . . g.31625
GGAGCAGGCCTGGCCTTGGAGAACGAGACCTGTGTGCCAGGGGCAGATGGCCTGGAGGCT c.2520
G A G L A L E N E T C V P G A D G L E A p.840
. . . . . . g.31685
CCAGTGACTGAGGGGCCTGGCTCCGTAGATGAGAAGCTGCCTGCCCCTGAGCCCTGTGTC c.2580
P V T E G P G S V D E K L P A P E P C V p.860
. . . | 21 . . . g.32391
GGGATGTCATGTCCTCCAGGCTGGGGCCAT | CTGGATGCCACCTCTGCAGGGGAGAAGGCT c.2640
G M S C P P G W G H | L D A T S A G E K A p.880
. . . . . . g.32451
CCCTCCCCATGGGGCAGCATCAGGACGGGGGCTCAAGCTGCACACGTGTGGACCCCTGCG c.2700
P S P W G S I R T G A Q A A H V W T P A p.900
. . . | 22 . . . g.35290
GCAGGGTCGTGCTCCGTCTCCTGCGGGCGAG | GTCTGATGGAGCTGCGTTTCCTGTGCATG c.2760
A G S C S V S C G R G | L M E L R F L C M p.920
. . . . . . g.35350
GACTCTGCCCTCAGGGTGCCTGTCCAGGAAGAGCTGTGTGGCCTGGCAAGCAAGCCTGGG c.2820
D S A L R V P V Q E E L C G L A S K P G p.940
. . . . | 23 . . g.36464
AGCCGGCGGGAGGTCTGCCAGGCTGTCCCGTGCCCTGCTCG | GTGGCAGTACAAGCTGGCG c.2880
S R R E V C Q A V P C P A R | W Q Y K L A p.960
. . . . . . g.36524
GCCTGCAGCGTGAGCTGTGGGAGAGGGGTCGTGCGGAGGATCCTGTATTGTGCCCGGGCC c.2940
A C S V S C G R G V V R R I L Y C A R A p.980
. . . . . . g.36584
CATGGGGAGGACGATGGTGAGGAGATCCTGTTGGACACCCAGTGCCAGGGGCTGCCTCGC c.3000
H G E D D G E E I L L D T Q C Q G L P R p.1000
. . . . | 24 . . g.41094
CCGGAACCCCAGGAGGCCTGCAGCCTGGAGCCCTGCCCACCTAG | GTGGAAAGTCATGTCC c.3060
P E P Q E A C S L E P C P P R | W K V M S p.1020
. . . . . . g.41154
CTTGGCCCATGTTCGGCCAGCTGTGGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTG c.3120
L G P C S A S C G L G T A R R S V A C V p.1040
. . . . . . g.41214
CAGCTCGACCAAGGCCAGGACGTGGAGGTGGACGAGGCGGCCTGTGCGGCGCTGGTGCGG c.3180
Q L D Q G Q D V E V D E A A C A A L V R p.1060
. . . . . . g.41274
CCCGAGGCCAGTGTCCCCTGTCTCATTGCCGACTGCACCTACCGCTGGCATGTTGGCACC c.3240
P E A S V P C L I A D C T Y R W H V G T p.1080
| 25 . . . . . g.41999
TGGATGGAG | TGCTCTGTTTCCTGTGGGGATGGCATCCAGCGCCGGCGTGACACCTGCCTC c.3300
W M E | C S V S C G D G I Q R R R D T C L p.1100
. . . . . . g.42059
GGACCCCAGGCCCAGGCGCCTGTGCCAGCTGATTTCTGCCAGCACTTGCCCAAGCCGGTG c.3360
G P Q A Q A P V P A D F C Q H L P K P V p.1120
. . . . . . g.42119
ACTGTGCGTGGCTGCTGGGCTGGGCCCTGTGTGGGACAGGGTACGCCCAGCCTGGTGCCC c.3420
T V R G C W A G P C V G Q G T P S L V P p.1140
. . . . . . g.42179
CACGAAGAAGCCGCTGCTCCAGGACGGACCACAGCCACCCCTGCTGGTGCCTCCCTGGAG c.3480
H E E A A A P G R T T A T P A G A S L E p.1160
. . . . . . g.42239
TGGTCCCAGGCCCGGGGCCTGCTCTTCTCCCCGGCTCCCCAGCCTCGGCGGCTCCTGCCC c.3540
W S Q A R G L L F S P A P Q P R R L L P p.1180
. . | 26 . . . g.42764
GGGCCCCAGGAAAACTCAGTGCAGTCCA | GTGCCTGTGGCAGGCAGCACCTTGAGCCAACA c.3600
G P Q E N S V Q S S | A C G R Q H L E P T p.1200
. . . . . . g.42824
GGAACCATTGACATGCGAGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGCCC c.3660
G T I D M R G P G Q A D C A V A I G R P p.1220
. . . . . | 27 . g.43211
CTCGGGGAGGTGGTGACCCTCCGCGTCCTTGAGAGTTCTCTCAACTGCAGTGCGG | GGGAC c.3720
L G E V V T L R V L E S S L N C S A G | D p.1240
. . . . . . g.43271
ATGTTGCTGCTTTGGGGCCGGCTCACCTGGAGGAAGATGTGCAGGAAGCTGTTGGACATG c.3780
M L L L W G R L T W R K M C R K L L D M p.1260
. . . . . . g.43331
ACTTTCAGCTCCAAGACCAACACGCTGGTGGTGAGGCAGCGCTGCGGGCGGCCAGGAGGT c.3840
T F S S K T N T L V V R Q R C G R P G G p.1280
. . . . . | 28 . g.44581
GGGGTGCTGCTGCGGTATGGGAGCCAGCTTGCTCCTGAAACCTTCTACAGAG | AATGTGAC c.3900
G V L L R Y G S Q L A P E T F Y R E | C D p.1300
. . . . . . g.44641
ATGCAGCTCTTTGGGCCCTGGGGTGAAATCGTGAGCCCCTCGCTGAGTCCAGCCACGAGT c.3960
M Q L F G P W G E I V S P S L S P A T S p.1320
. . . . . . g.44701
AATGCAGGGGGCTGCCGGCTCTTCATTAATGTGGCTCCGCACGCACGGATTGCCATCCAT c.4020
N A G G C R L F I N V A P H A R I A I H p.1340
. . . . . | 29. g.45640
GCCCTGGCCACCAACATGGGCGCTGGGACCGAGGGAGCCAATGCCAGCTACATCTTG | ATC c.4080
A L A T N M G A G T E G A N A S Y I L | I p.1360
. . . . . . g.45700
CGGGACACCCACAGCTTGAGGACCACAGCGTTCCATGGGCAGCAGGTGCTCTACTGGGAG c.4140
R D T H S L R T T A F H G Q Q V L Y W E p.1380
. . . . . . g.45760
TCAGAGAGCAGCCAGGCTGAGATGGAGTTCAGCGAGGGCTTCCTGAAGGCTCAGGCCAGC c.4200
S E S S Q A E M E F S E G F L K A Q A S p.1400
. . . . . . g.45820
CTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCGGAGATGCAGGACCCTCAGTCC c.4260
L R G Q Y W T L Q S W V P E M Q D P Q S p.1420
. . g.45844
TGGAAGGGAAAGGAAGGAACCTGA c.4284
W K G K E G T X p.1427
. . . . . . g.45904
gggtcattgaacatttgttccgtgtctggccagccctggagggttgacccctggtctcag c.*60
. . . . . . g.45964
tgctttccaattcgaactttttccaatcttaggtatctactttagagtcttctccaatgt c.*120
. . . . . . g.46024
ccaaaaggctagggggttggaggtggggactctggaaaagcagcccccatttcctcgggt c.*180
. . . . g.46067
accaataaataaaacatgcaggctgaccggcgtttttttctta c.*223
(downstream sequence)
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