(used for variant description)
(last modified December 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005902.3 in the SMAD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011990.1, covering SMAD3 transcript NM_005902.3.
(upstream sequence)
. . . . . g.5058
gcggccgccgcctccgccccgcgttcggggccttcccgaccctgcactgctgccgtcc c.-241
. . . . . . g.5118
gcccgcccggccgctcttctcttcgccgtgggagccgctccgggcgcagggccgcgcgcc c.-181
. . . . . . g.5178
gagccccgcaggctgcagcgccgcggcccggcccggcgccccggcaacttcgccgagagt c.-121
. . . . . . g.5238
tgaggcgaagtttgggcgaccgcggcaggccccggccgagctcccctctgcgcccccggc c.-61
. . . . . . g.5298
gtcccgtcgagcccagccccgccgggggcgctcctcgccgcccgcgcgccctccccagcc c.-1
. . . . . . g.5358
ATGTCGTCCATCCTGCCTTTCACTCCCCCGATCGTGAAGCGCCTGCTGGGCTGGAAGAAG c.60
M S S I L P F T P P I V K R L L G W K K p.20
. . . . . . g.5418
GGCGAGCAGAACGGGCAGGAGGAGAAATGGTGCGAGAAGGCGGTCAAGAGCCTGGTCAAG c.120
G E Q N G Q E E K W C E K A V K S L V K p.40
. . . . . . g.5478
AAACTCAAGAAGACGGGGCAGCTGGACGAGCTGGAGAAGGCCATCACCACGCAGAACGTC c.180
K L K K T G Q L D E L E K A I T T Q N V p.60
. . | 02 . . . . g.104072
AACACCAAGTGCATCACCATCCCCAG | GTCCCTGGATGGCCGGTTGCAGGTGTCCCATCGG c.240
N T K C I T I P R | S L D G R L Q V S H R p.80
. . . . . . g.104132
AAGGGGCTCCCTCATGTCATCTACTGCCGCCTGTGGCGATGGCCAGACCTGCACAGCCAC c.300
K G L P H V I Y C R L W R W P D L H S H p.100
. . . . . . g.104192
CACGAGCTACGGGCCATGGAGCTGTGTGAGTTCGCCTTCAATATGAAGAAGGACGAGGTC c.360
H E L R A M E L C E F A F N M K K D E V p.120
. . . . | 03 . . g.104416
TGCGTGAATCCCTACCACTACCAGAGAGTAGAGACACCAG | TTCTACCTCCTGTGTTGGTG c.420
C V N P Y H Y Q R V E T P V | L P P V L V p.140
. . . . . . g.104476
CCACGCCACACAGAGATCCCGGCCGAGTTCCCCCCACTGGACGACTACAGCCATTCCATC c.480
P R H T E I P A E F P P L D D Y S H S I p.160
. . . . . | 04 . g.105930
CCCGAAAACACTAACTTCCCCGCAGGCATCGAGCCCCAGAGCAATATTCCAG | AGACCCCA c.540
P E N T N F P A G I E P Q S N I P E | T P p.180
. . . . . . g.105990
CCCCCTGGCTACCTGAGTGAAGATGGAGAAACCAGTGACCACCAGATGAACCACAGCATG c.600
P P G Y L S E D G E T S D H Q M N H S M p.200
| 05. . . . . | 06 g.120386
GACGCAG | GTTCTCCAAACCTATCCCCGAATCCGATGTCCCCAGCACATAATAACTTGG | AC c.660
D A G | S P N L S P N P M S P A H N N L D | p.220
. . . . . . g.120446
CTGCAGCCAGTTACCTACTGCGAGCCGGCCTTCTGGTGCTCCATCTCCTACTACGAGCTG c.720
L Q P V T Y C E P A F W C S I S Y Y E L p.240
. . . . . . g.120506
AACCAGCGCGTCGGGGAGACATTCCACGCCTCGCAGCCATCCATGACTGTGGATGGCTTC c.780
N Q R V G E T F H A S Q P S M T V D G F p.260
. . . . . . g.120566
ACCGACCCCTCCAATTCGGAGCGCTTCTGCCTAGGGCTGCTCTCCAATGTCAACAGGAAT c.840
T D P S N S E R F C L G L L S N V N R N p.280
. . . | 07 . . . g.123899
GCAGCAGTGGAGCTGACACGGAGACACATCG | GAAGAGGCGTGCGGCTCTACTACATCGGA c.900
A A V E L T R R H I G | R G V R L Y Y I G p.300
. . . . . . g.123959
GGGGAGGTCTTCGCAGAGTGCCTCAGTGACAGCGCTATTTTTGTCCAGTCTCCCAACTGT c.960
G E V F A E C L S D S A I F V Q S P N C p.320
. . . . | 08 . g.126519
AACCAGCGCTATGGCTGGCACCCGGCCACCGTCTGCAAGATCCCACCAG | GATGCAACCTG c.1020
N Q R Y G W H P A T V C K I P P G | C N L p.340
. . . . . . g.126579
AAGATCTTCAACAACCAGGAGTTCGCTGCCCTCCTGGCCCAGTCGGTCAACCAGGGCTTT c.1080
K I F N N Q E F A A L L A Q S V N Q G F p.360
. . . . . . g.126639
GAGGCTGTCTACCAGTTGACCCGAATGTGCACCATCCGCATGAGCTTCGTCAAAGGCTGG c.1140
E A V Y Q L T R M C T I R M S F V K G W p.380
. | 09 . . . . . g.129602
GGAGCGGAGTACAG | GAGACAGACTGTGACCAGTACCCCCTGCTGGATTGAGCTGCACCTG c.1200
G A E Y R | R Q T V T S T P C W I E L H L p.400
. . . . . . g.129662
AATGGGCCTTTGCAGTGGCTTGACAAGGTCCTCACCCAGATGGGCTCCCCAAGCATCCGC c.1260
N G P L Q W L D K V L T Q M G S P S I R p.420
. g.129680
TGTTCCAGTGTGTCTTAG c.1278
C S S V S X p.425
. . . . . . g.129740
agacatcaagtatggtaggggagggcaggcttggggaaaatggccatgcaggaggtggag c.*60
. . . . . . g.129800
aaaattggaactctactcaacccattgttgtcaaggaagaagaaatctttctccctcaac c.*120
. . . . . . g.129860
tgaaggggtgcacccacctgttttctgaaacacacgagcaaacccagaggtggatgttat c.*180
. . . . . . g.129920
gaacagctgtgtctgccaaacacatttaccctttggccccactttgaagggcaagaaatg c.*240
. . . . . . g.129980
gcgtctgctctggtggcttaagtgagcagaacaggtagtattacaccaccggccccctcc c.*300
. . . . . . g.130040
ccccagactctttttttgagtgacagctttctgggatgtcacagtccaaccagaaacacc c.*360
. . . . . . g.130100
cctctgtctaggactgcagtgtggagttcaccttggaagggcgttctaggtaggaagagc c.*420
. . . . . . g.130160
ccgcagggccatgcagacctcatgcccagctctctgacgcttgtgacagtgcctcttcca c.*480
. . . . . . g.130220
gtgaacattcccagcccagccccgccccgccccgccccaccactccagcagaccttgccc c.*540
. . . . . . g.130280
cttgtgagctggatagacttgggatggggagggagggagttttgtctgtctccctcccct c.*600
. . . . . . g.130340
ctcagaacatactgattgggaggtgcgtgttcagcagaacctgcacacaggacagcggga c.*660
. . . . . . g.130400
aaaatcgatgagcgccacctctttaaaaactcacttacgtttgtcctttttcactttgaa c.*720
. . . . . . g.130460
aagttggaaggatctgctgaggcccagtgcatatgcaatgtatagtgtctattatcacat c.*780
. . . . . . g.130520
taatctcaaagagattcgaatgacggtaagtgttctcatgaagcaggaggcccttgtcgt c.*840
. . . . . . g.130580
gggatggcatttggtctcaggcagcaccacactgggtgcgtctccagtcatctgtaagag c.*900
. . . . . . g.130640
cttgctccagattctgatgcatacggctatattggtttatgtagtcagttgcattcatta c.*960
. . . . . . g.130700
aatcaactttatcatatgctcttttaaatgtttggtttatatattttctttaaaaatcct c.*1020
. . . . . . g.130760
gggctggcacattgactgggaaacctgagtgagacccagcaactgcttctctcccttctc c.*1080
. . . . . . g.130820
tctcctgaggtgaagcttttccaggttttgttgaagagatacctgccagcacttctgcaa c.*1140
. . . . . . g.130880
gctgaaatttacagaagcaaattcaccagaagggaaacatctcaggccaacataggcaaa c.*1200
. . . . . . g.130940
tgaaaagggctattaaaatatttttacacctttgaaaattgcaggcttggtacaaagagg c.*1260
. . . . . . g.131000
tctgtcatcttccccctgggatataagatgatctagctcccggtagaggatcaccggtga c.*1320
. . . . . . g.131060
caactatagcagttgtattgtgtaacaagtactgctcccagcagcaattagggagaaaac c.*1380
. . . . . . g.131120
tagtctaaattatttcaactggaaaaaagaaaaaagagtcctcttcttttcccagccttt c.*1440
. . . . . . g.131180
tgcagaacacagtagacagaactgccaccttcaattggtactttattctttgctgctgtt c.*1500
. . . . . . g.131240
tttgtataaaatgacctatcccacgtttttgcatgaatttatagcaggaaaaatcaaggg c.*1560
. . . . . . g.131300
atttcctatggaagtcctgctttattccaggtgaagggaaggaagtgtatatacttttgg c.*1620
. . . . . . g.131360
caagtcatacagctcaaatgtgatgagatttctgatgttagagggagatggagaggcttc c.*1680
. . . . . . g.131420
ctgatgcctcatctgcagggtcctgtgcctctgaagttctagccatgaggtttccaggta c.*1740
. . . . . . g.131480
ggacagctgctccccaagcctcctgaggacacaggaagagacggaaggagcaccttgaca c.*1800
. . . . . . g.131540
gacttgtgtgagtcttctcgaaggagggttgactcagaacccagagacaatacaaaaccc c.*1860
. . . . . . g.131600
ctcacttcctctgagagggccaaatgctgtgagtctgaagtatgtgcctggtgtgaaatg c.*1920
. . . . . . g.131660
atctatggcctgtttcttacacaggaagccccctgaacctcctgtacatgtgttcatgtt c.*1980
. . . . . . g.131720
cccagccagctctgagacccaggaaccaaatattccattttggcttctgctagagcagtc c.*2040
. . . . . . g.131780
atggttcctctcctaaaagccatgggcagcagtttccgagggcctgcatgatccacctgc c.*2100
. . . . . . g.131840
tgcacgatcctatgagggcttcctgtggcacacagccctctgggtgcttgggaactagct c.*2160
. . . . . . g.131900
tcaggcacagcctgattctggtgatccagtgatctatggaagtcgtgtcttactccaggt c.*2220
. . . . . . g.131960
gaagggggaaaaaaaaagcctatactttggcaggttatgaactttgaatgtgatgaaatg c.*2280
. . . . . . g.132020
acacgtttggctgcatttggatggtgtcttagaaccctcattgctcagacctgaaggcta c.*2340
. . . . . . g.132080
cttctaggagcatgaagtttgagttttgtgtttttccaaaggatacttccttggcccttt c.*2400
. . . . . . g.132140
ttctttattgactagaccaccagaggaggatgtgtgggattgtaggcaaacccacctgtg c.*2460
. . . . . . g.132200
gcatcactgaaaataaatttgatcatacctaagaggttaggaaatggtgccattcccacc c.*2520
. . . . . . g.132260
ttagagtgctacataggtgctttgggcgtatgtaacattagtgtccttccttgaagccac c.*2580
. . . . . . g.132320
aagctagttttcttagttttaaaatcctgttgtatgaatggcatttgtatattaaaacac c.*2640
. . . . . . g.132380
ttttttaaaggacagttgaaaagggcaagaggaaaccagggcagttctagaggagtgctg c.*2700
. . . . . . g.132440
gtgactggatagcagttttaagtggcgttcacctagtcaacacgaccgcgtgtgttgccc c.*2760
. . . . . . g.132500
ctgccctgggctccccgccatgacatcttcaccttgcagcttgtgctgagactgacccaa c.*2820
. . . . . . g.132560
gtgcagctagcactgggacacagatccttgtcttcagcaccttccaaggagccaactttt c.*2880
. . . . . . g.132620
attccctttcctctctcccctccccacctcgcttcttcccaatttagtaacttagatgct c.*2940
. . . . . . g.132680
tccagcacatacgtaggtagctaccccagccggtttggattacaggcctgtgctggaaca c.*3000
. . . . . . g.132740
tcatctcagttggccaccttcctggcaggctgtagacctgacattttgagacaagcctag c.*3060
. . . . . . g.132800
agtcaggagcagggactttgactcttaggaagagcacacatgagggcaaggctgctggca c.*3120
. . . . . . g.132860
gacgtctccattgtccttatgttgtctgtgttgtatttttttttttttattgaccatggt c.*3180
. . . . . . g.132920
gattatttttttaaaccatcgttaatatactgaagtgagctatagcacatatcatgtgct c.*3240
. . . . . . g.132980
tagtttgtttatttttctccatctccccttggcttcctagagtttggacatattccaggc c.*3300
. . . . . . g.133040
taaatgcttttactcaagactacagaaaggtttgaagtagtgtgtgcatggcatgcacgt c.*3360
. . . . . . g.133100
atgtaagtaatctggggaagaagcaaagatctgtttcattcttagcctcaggcctcatga c.*3420
. . . . . . g.133160
gggtctccacagggccggagctcaggttacaccactccttcgtccttacaggagatgtag c.*3480
. . . . . . g.133220
ggagaagaatctgcaggctgcttgtaggactgttcaccaagggggataccagcagcaaga c.*3540
. . . . . . g.133280
gagtgcacccgtttagccctggaccctgtttcttactgtgtgacttggctagagttggga c.*3600
. . . . . . g.133340
gttcccccaaaataaacgtgtccccattttaccagaaccaaacctcaacacagcgaagct c.*3660
. . . . . . g.133400
gtactgtctttgtgtggcaaagatgttcccttgtaggcccctttcaggtaaccgtcttca c.*3720
. . . . . . g.133460
caatgtattttcatcacagtttaaggagcatcagccgcttctcaagtgggtagggaaagc c.*3780
. . . . . . g.133520
agaaaaacgtacgcaagaggacatggatccaaaatgatgatgaagcatctcccatgggga c.*3840
. . . . . . g.133580
ggtgatggtggggagatgatgggctaaacaggcaacttttcaaaaacacagctatcatag c.*3900
. . . . . . g.133640
aaaagaaacttgcctcatgtaaactggattgagaaattctcagtgattctgcaatggatt c.*3960
. . . . . . g.133700
tttttttaatgcagaagtaatgtatactctagtattctggtgtttttatatttatgtaat c.*4020
. . . . . . g.133760
aatttcttaaaaccattcagacagataactatttaattttttttaagaaagttggaaagg c.*4080
. . . . . . g.133820
tctctcctcccaaggacagtggctggaagagttggggcacagccagttctgaatgttggt c.*4140
. . . . . . g.133880
ggagggtgtagtggctttttggctcagcatccagaaacaccaaaccaggctggctaaaca c.*4200
. . . . . . g.133940
agtggccgcgtgtaaaaacagacagctctgagtcaaatctgggcccttccacaagggtcc c.*4260
. . . . . . g.134000
tctgaaccaagccccactcccttgctaggggtgaaagcattacagagagatggagccatc c.*4320
. . . . . . g.134060
tatccaagaagccttcactcaccttcactgctgctgttgcaactcggctgttctggactc c.*4380
. . . . . . g.134120
tgatgtgtgtggagggatggggaatagaacattgactgtgttgattaccttcactattcg c.*4440
. . . . . . g.134180
gccagcctgaccttttaataactttgtaaaaagcatgtatgtatttatagtgttttagat c.*4500
. . . . . . g.134240
ttttctaacttttatatcttaaaagcagagcacctgtttaagcattgtacccctattgtt c.*4560
. . . . . . g.134300
aaagatttgtgtcctctcattccctctcttcctcttgtaagtgcccttctaataaacttt c.*4620
. . . g.134336
tcatggaaaagctcctgtgccaggagctcagtctga c.*4656
(downstream sequence)
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