(used for variant description)
(last modified May 9, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014243.2 in the ADAMTS3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046955.1, covering ADAMTS3 transcript NM_014243.2.
(upstream sequence)
. . . g.5037
gctttgcccagtagttggaaagtgaactcgactcgtg c.-1
. . . . . . g.5097
ATGGTTCTCCTGTCACTTTGGTTGATAGCAGCCGCTCTGGTAGAGGTTAGGACTTCAGCT c.60
M V L L S L W L I A A A L V E V R T S A p.20
| 02 . . | 03. . . g.24938
GATGGACAA | GCTGGTAATGAAGAAATGGTGCAAATAG | ATTTACCAATAAAGAGATATAGA c.120
D G Q | A G N E E M V Q I D | L P I K R Y R p.40
. . . . . . g.24998
GAGTATGAGCTGGTGACTCCAGTCAGCACAAATCTAGAAGGACGCTATCTCTCCCATACT c.180
E Y E L V T P V S T N L E G R Y L S H T p.60
. . . . . . g.25058
CTTTCTGCGAGTCACAAAAAGAGGTCAGCGAGGGACGTGTCTTCCAACCCTGAGCAGTTG c.240
L S A S H K K R S A R D V S S N P E Q L p.80
. . . . . . g.25118
TTCTTTAACATCACGGCATTTGGAAAAGATTTTCATCTGCGACTAAAGCCCAACACTCAA c.300
F F N I T A F G K D F H L R L K P N T Q p.100
. . . . . . g.25178
CTAGTAGCTCCTGGGGCTGTTGTGGAGTGGCATGAGACATCTCTGGTGCCTGGGAATATA c.360
L V A P G A V V E W H E T S L V P G N I p.120
. . . . . . g.25238
ACCGATCCCATTAACAACCATCAACCAGGAAGTGCTACGTATAGAATCCGGAGAACAGAG c.420
T D P I N N H Q P G S A T Y R I R R T E p.140
. . . . . . g.25298
CCTTTGCAGACTAACTGTGCTTATGTTGGTGACATCGTGGACATTCCAGGAACCTCTGTT c.480
P L Q T N C A Y V G D I V D I P G T S V p.160
. . | 04 . . . . g.158864
GCCATCAGCAACTGTGATGGTCTG | GCTGGAATGATAAAAAGTGATAATGAAGAGTATTTC c.540
A I S N C D G L | A G M I K S D N E E Y F p.180
. . . . . . g.158924
ATTGAACCCTTGGAAAGAGGTAAACAGATGGAGGAAGAAAAAGGAAGGATTCATGTTGTC c.600
I E P L E R G K Q M E E E K G R I H V V p.200
. . . . . . g.158984
TACAAGAGATCAGCTGTAGAACAGGCTCCCATAGACATGTCCAAAGACTTCCACTACAGA c.660
Y K R S A V E Q A P I D M S K D F H Y R p.220
| 05 . . . . . . g.234165
G | AGTCGGACCTGGAAGGCCTTGATGATCTAGGTACTGTTTATGGCAACATCCACCAGCAG c.720
E | S D L E G L D D L G T V Y G N I H Q Q p.240
. . . . . . g.234225
CTGAATGAAACAATGAGACGCCGCAGACACGCGGGAGAAAACGATTACAATATCGAGGTA c.780
L N E T M R R R R H A G E N D Y N I E V p.260
. . . . . . g.234285
CTGCTGGGAGTGGATGACTCTGTGGTCCGTTTCCATGGCAAAGAGCACGTCCAAAACTAC c.840
L L G V D D S V V R F H G K E H V Q N Y p.280
. . | 06 . . . . g.250741
CTCCTGACCCTAATGAACATT | GTGAATGAAATTTACCATGATGAGTCCCTCGGAGTGCAT c.900
L L T L M N I | V N E I Y H D E S L G V H p.300
. . . . | 07 . . g.252944
ATAAATGTGGTCCTGGTGCGCATGATAATGCTGGGATATGCAAAG | TCCATCAGCCTCATA c.960
I N V V L V R M I M L G Y A K | S I S L I p.320
. . . . . . g.253004
GAAAGGGGAAACCCATCCAGAAGCTTGGAGAATGTGTGTCGCTGGGCGTCCCAACAGCAA c.1020
E R G N P S R S L E N V C R W A S Q Q Q p.340
. . . . . . g.253064
AGATCTGATCTCAACCACTCTGAACACCATGACCATGCAATTTTTTTAACCAGGCAAGAC c.1080
R S D L N H S E H H D H A I F L T R Q D p.360
. . | 08 . . . . g.253874
TTTGGACCTGCTGGAATGCAAG | GATATGCTCCAGTCACCGGCATGTGTCATCCAGTGAGA c.1140
F G P A G M Q G | Y A P V T G M C H P V R p.380
. . . . . . g.253934
AGTTGTACCCTGAATCATGAGGATGGTTTTTCATCTGCTTTTGTAGTAGCCCATGAAACG c.1200
S C T L N H E D G F S S A F V V A H E T p.400
| 09 . . . . . g.254376
GGCCATGT | GTTGGGAATGGAGCATGATGGACAAGGCAACAGGTGTGGTGATGAGACTGCT c.1260
G H V | L G M E H D G Q G N R C G D E T A p.420
. . . . . . g.254436
ATGGGAAGTGTCATGGCTCCCTTGGTACAAGCAGCATTCCATCGTTACCACTGGTCCCGA c.1320
M G S V M A P L V Q A A F H R Y H W S R p.440
. . . | 10 . . . g.255123
TGCAGTGGTCAAGAACTGAAAAGATATATCCA | TTCCTATGACTGTCTCCTTGATGACCCT c.1380
C S G Q E L K R Y I H | S Y D C L L D D P p.460
. . . . . . g.255183
TTTGATCATGATTGGCCTAAACTCCCAGAACTTCCTGGAATCAATTATTCTATGGATGAG c.1440
F D H D W P K L P E L P G I N Y S M D E p.480
. . . . | 11 . . g.257843
CAATGTCGTTTTGATTTTGGTGTTGGCTATAAAATGTGCACCGCG | TTCCGAACCTTTGAC c.1500
Q C R F D F G V G Y K M C T A | F R T F D p.500
. . . . . . g.257903
CCATGTAAACAGCTGTGGTGTAGCCATCCTGATAATCCCTACTTTTGTAAGACTAAAAAG c.1560
P C K Q L W C S H P D N P Y F C K T K K p.520
. . . | 12 . . g.259998
GGACCTCCACTTGATGGGACTGAATGTGCTGCTGGAAAA | TGGTGCTATAAGGGTCATTGC c.1620
G P P L D G T E C A A G K | W C Y K G H C p.540
. . . . . . g.260058
ATGTGGAAGAATGCTAATCAGCAAAAACAAGATGGCAATTGGGGGTCATGGACTAAATTT c.1680
M W K N A N Q Q K Q D G N W G S W T K F p.560
. . . . . . g.260118
GGCTCCTGTTCTCGGACATGTGGAACTGGTGTTCGTTTCAGAACACGCCAGTGCAATAAT c.1740
G S C S R T C G T G V R F R T R Q C N N p.580
| 13 . . . . . . g.261388
CCCAT | GCCCATCAATGGTGGTCAGGATTGTCCTGGTGTTAATTTTGAGTACCAGCTTTGT c.1800
P M | P I N G G Q D C P G V N F E Y Q L C p.600
. . . . . . g.261448
AACACAGAAGAATGCCAAAAACACTTTGAGGACTTCAGAGCACAGCAGTGTCAGCAGCGA c.1860
N T E E C Q K H F E D F R A Q Q C Q Q R p.620
. . . . . . g.261508
AACTCCCACTTTGAATACCAGAATACCAAACACCACTGGTTGCCATATGAACATCCTGAC c.1920
N S H F E Y Q N T K H H W L P Y E H P D p.640
| 14 . . . . . . g.262677
C | CCAAGAAAAGATGCCACCTTTACTGTCAGTCCAAGGAGACTGGAGATGTTGCTTACATG c.1980
P | K K R C H L Y C Q S K E T G D V A Y M p.660
. . . . . . g.262737
AAACAACTGGTGCATGATGGAACGCACTGTTCTTACAAAGATCCATATAGCATATGTGTG c.2040
K Q L V H D G T H C S Y K D P Y S I C V p.680
. | 15 . . . . . g.264324
CGAGGAGAGTGTGTG | AAAGTGGGCTGTGATAAAGAAATTGGTTCTAATAAGGTTGAGGAT c.2100
R G E C V | K V G C D K E I G S N K V E D p.700
. . . . . . g.264384
AAGTGTGGTGTCTGTGGAGGAGATAATTCCCACTGCCGAACCGTGAAGGGGACATTTACC c.2160
K C G V C G G D N S H C R T V K G T F T p.720
. | 16 . . . . g.267773
AGAACTCCCAGGAAGCTTG | GGTACCTTAAGATGTTTGATATACCCCCTGGGGCTAGACAT c.2220
R T P R K L G | Y L K M F D I P P G A R H p.740
. . . . | 17 . . g.269739
GTGTTAATCCAAGAAGACGAGGCTTCTCCTCATATTCTTG | CTATTAAGAACCAGGCTACA c.2280
V L I Q E D E A S P H I L A | I K N Q A T p.760
. . . . . . g.269799
GGCCATTATATTTTAAATGGCAAAGGGGAGGAAGCCAAGTCGCGGACCTTCATAGATCTT c.2340
G H Y I L N G K G E E A K S R T F I D L p.780
. . . . . . g.269859
GGTGTGGAGTGGGATTATAACATTGAAGATGACATTGAAAGTCTTCACACCGATGGACCT c.2400
G V E W D Y N I E D D I E S L H T D G P p.800
. . | 18 . . . . g.275393
TTACATGATCCTGTTATTGTTTTG | ATTATACCTCAAGAAAATGATACCCGCTCTAGCCTG c.2460
L H D P V I V L | I I P Q E N D T R S S L p.820
. . . . . . g.275453
ACATATAAGTACATCATCCATGAAGACTCTGTACCTACAATCAACAGCAACAATGTCATC c.2520
T Y K Y I I H E D S V P T I N S N N V I p.840
. . . . . . g.275513
CAGGAAGAATTAGATACTTTTGAGTGGGCTTTGAAGAGCTGGTCTCAGTGTTCCAAACCC c.2580
Q E E L D T F E W A L K S W S Q C S K P p.860
. | 19 . . . . . g.278063
TGTGGTGGAG | GTTTCCAGTACACTAAATATGGATGCCGTAGGAAAAGTGATAATAAAATG c.2640
C G G G | F Q Y T K Y G C R R K S D N K M p.880
. . . . . . g.278123
GTCCATCGCAGCTTCTGTGAGGCCAACAAAAAGCCGAAACCTATTAGACGAATGTGCAAT c.2700
V H R S F C E A N K K P K P I R R M C N p.900
. . | 20 . . . . g.282774
ATTCAAGAGTGTACACATCCACT | CTGGGTAGCAGAAGAATGGGAACACTGCACCAAAACC c.2760
I Q E C T H P L | W V A E E W E H C T K T p.920
. . . . . . g.282834
TGTGGAAGTTCTGGCTATCAGCTTCGCACTGTACGCTGCCTTCAGCCACTCCTTGATGGC c.2820
C G S S G Y Q L R T V R C L Q P L L D G p.940
. . . . . . g.282894
ACCAACCGCTCTGTGCACAGCAAATACTGCATGGGTGACCGTCCCGAGAGCCGCCGGCCC c.2880
T N R S V H S K Y C M G D R P E S R R P p.960
. . . . . | 21 . g.284940
TGTAACAGAGTGCCCTGCCCTGCACAGTGGAAAACAGGACCCTGGAGTGAG | TGTTCAGTG c.2940
C N R V P C P A Q W K T G P W S E | C S V p.980
. . . . . . g.285000
ACCTGCGGTGAAGGAACGGAGGTGAGGCAGGTCCTCTGCAGGGCTGGGGACCACTGTGAT c.3000
T C G E G T E V R Q V L C R A G D H C D p.1000
. . . . | 22 . g.290106
GGTGAAAAGCCTGAGTCGGTCAGAGCCTGTCAACTGCCTCCTTGTAATG | ATGAACCATGT c.3060
G E K P E S V R A C Q L P P C N D | E P C p.1020
. . . . . . g.290166
TTGGGAGACAAGTCCATATTCTGTCAAATGGAAGTGTTGGCACGATACTGCTCCATACCA c.3120
L G D K S I F C Q M E V L A R Y C S I P p.1040
. . . . . . g.290226
GGTTATAACAAGTTATGTTGTGAGTCCTGCAGCAAGCGCAGTAGCACCCTGCCACCACCA c.3180
G Y N K L C C E S C S K R S S T L P P P p.1060
. . . . . . g.290286
TACCTTCTAGAAGCTGCTGAAACTCATGATGATGTCATCTCTAACCCTAGTGACCTCCCT c.3240
Y L L E A A E T H D D V I S N P S D L P p.1080
. . . . . . g.290346
AGATCTCTAGTGATGCCTACATCTTTGGTTCCTTATCATTCAGAGACCCCTGCAAAGAAG c.3300
R S L V M P T S L V P Y H S E T P A K K p.1100
. . . . . . g.290406
ATGTCTTTGAGTAGCATCTCTTCAGTGGGAGGTCCAAATGCATATGCTGCTTTCAGGCCA c.3360
M S L S S I S S V G G P N A Y A A F R P p.1120
. . . . . . g.290466
AACAGTAAACCTGATGGTGCTAATTTACGCCAGAGGAGTGCTCAGCAAGCAGGAAGTAAG c.3420
N S K P D G A N L R Q R S A Q Q A G S K p.1140
. . . . . . g.290526
ACTGTGAGACTGGTCACCGTACCATCCTCCCCACCCACCAAGAGGGTCCACCTCAGTTCA c.3480
T V R L V T V P S S P P T K R V H L S S p.1160
. . . . . . g.290586
GCTTCACAAATGGCTGCTGCTTCCTTCTTTGCAGCCAGTGATTCAATAGGTGCTTCTTCT c.3540
A S Q M A A A S F F A A S D S I G A S S p.1180
. . . . . . g.290646
CAGGCAAGAACCTCAAAGAAAGATGGAAAGATCATTGACAACAGACGTCCGACAAGATCA c.3600
Q A R T S K K D G K I I D N R R P T R S p.1200
. g.290664
TCCACCTTAGAAAGATGA c.3618
S T L E R X p.1205
. . . . . . g.290724
gaaagtgaaccaaaaaggctagaaaccagaggaaaacctggacaacctctctcttcccat c.*60
. . . . . . g.290784
ggtgcatatgcttgtttaaagtggaaatctctatagatcgtcagctcattttatctgtaa c.*120
. . . . . . g.290844
ttggaagaacagaaagtgctggctcactttctagttgctttcatcctccttttgttctgc c.*180
. . . . . . g.290904
attgactcatttaccagaattcattggaagaaatcaccaaagattattacaaaagaaaaa c.*240
. . . . . . g.290964
tatgttgctaagattgtgttggtcgctctctgaagcagaaaagggactggaaccaattgt c.*300
. . . . . . g.291024
gcatatcagctgactttttgtttgttttagaaaagttacagtaaaaattaaaaagagata c.*360
. . . . . . g.291084
ccaatggtttacactttaacaagaaattttggatatggaacaaagaattcttagacttgt c.*420
. . . . . . g.291144
attcctatttatctatattagaaatattgtatgagcaaatttgcagctgttgtgtaaata c.*480
. . . . . . g.291204
ctgtatattgcaaaaatcagtattattttaagagatgtgttctcaaatgattgtttacta c.*540
. . . . . . g.291264
tattacatttctggatgttctaggtgcctgtcgttgagtattgccttgtttgacattcta c.*600
. . . . . . g.291324
taggttaattttcaaagcagagtattacaaaagagaagttagaattacagctactgacaa c.*660
. . . . . . g.291384
tataaagggttttgttgaatcaacaatgtgatacgtaaattatagaaaaagaaaagaaac c.*720
. . . . . . g.291444
acaaaagctatagatatacagatatcagcttacctattgccttctatacttataatttaa c.*780
. . . . . . g.291504
aggattggtgtcttagtacacttgtggtcacagggatcaacgaatagtaaataatgaact c.*840
. . . . . . g.291564
cgtgcaagacaaaactgaaaccctctttccaggacctcagtaggcaccgttgaggtgtcc c.*900
. . . . . . g.291624
tttgtttttgtgtgtgtgtgttcttttttaattttcgcattgttgacagatacaaacagt c.*960
. . . . . . g.291684
tatactcaatgtactgtaataatcgcaaaggaaaaagttttgggataacttatttgtatg c.*1020
. . . . . . g.291744
ttggtagctgagaaaaatatcatcagtctagaattgatatttgagtatagtagagctttg c.*1080
. . . . . . g.291804
gggctttgaaggcaggttcaagaaagcatatgtcgatggttgagatatttattttccata c.*1140
. . . . . . g.291864
tggttcatgttcaaatgttcacaaccacaatgcatctgactgcaataatgtgctaataat c.*1200
. . . . . . g.291924
ttatgtcagtagtcaccttgctcacagcaaagccagaaatgctctctccagggagtagat c.*1260
. . . . . . g.291984
gtaaagtacttgtacatagaattcagaactgaagatatttattaaaagttgatttttttt c.*1320
. . . . . . g.292044
cttgatagtatttttatgtactaaatatttacactaatatcaattacatattttggtaaa c.*1380
. . . . . . g.292104
ctagagagacataattagagatgcatgctttgttctgtgcatagagacctttaagcaaac c.*1440
. . . . . . g.292164
tactacagccaactcaaaagctaaaactgaacaaatttgatgttatgcaaacatcttgca c.*1500
. . . . . . g.292224
tttttagtagttgatattaagttgatgacttgtttcccttcaaggaaacattaaattgta c.*1560
. . . . . . g.292284
tggactcagctagctgttcaatgaaattgtgaattagaaacatttttaaaagtttttgaa c.*1620
. . . . . . g.292344
agagataagtgcatcatgaattacatgtacatgagaggagatagtgatatcagcataatg c.*1680
. . . . . . g.292404
attttgaggtcagtacctgagctgtctaaaaatatattatacaaactaaaatgtagatga c.*1740
. . . . . . g.292464
attaacctctcaaagcacagaatgtgcaagaacttttgcattttaatcgttgtaaactaa c.*1800
. . . . . . g.292524
cagcttaaactattgactctatacctctaaagaattgctgctactttgtgcaagaacttt c.*1860
. . . . . . g.292584
gaaggtcaaattaggcaaattccagatagtaaaacaatccctaagccttaagtctttttt c.*1920
. . . . . . g.292644
ttttcctaaaaattcccatagaataaaattctctctagtttacttgtgtgtgcatacatc c.*1980
. . . . . . g.292704
tcatccacaggggaagataaagatggtcacacaaacagtttccataaagatgtacatatt c.*2040
. . . . . . g.292764
cattatacttctgacctttgggctttcttttctactaagctaaaaattcctttttatcaa c.*2100
. . . . . . g.292824
agtgtacactactgatgctgtttgttgtactgagagcacgtaccaataaaaatgttaaca c.*2160
g.292831
aaatata c.*2167
(downstream sequence)
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