(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005585.4 in the SMAD6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012244.1, covering SMAD6 transcript NM_005585.4.
(upstream sequence)
. . g.5023
cgatcgagggagctgagccgaga c.-901
. . . . . . g.5083
gaaagagccgccgggcgctgcctcgccagacctcgctgggaccccggggccaccgggagg c.-841
. . . . . . g.5143
cacttttgtggaggggggagggggggcgacctcggcagcctcggcgcacgaagcgtccga c.-781
. . . . . . g.5203
gggcagcgtggggcgggctgcgacctctgcatcggtggactgcatttttaattaaggatt c.-721
. . . . . . g.5263
cccagcagctctttgggatttttacagcttccactcatgtgttgacacccgcgtccagga c.-661
. . . . . . g.5323
gaaactcgctccaagtgcatctagcgcctgggacctgagacggcgttggcctttcgtgca c.-601
. . . . . . g.5383
tgcaaatccagggatttaggttttgtttgggatttccttttctttctttccttttttttt c.-541
. . . . . . g.5443
tctttttgcagggagtaagaagggagctgggggtatcaacaagcctgcctttcggatcct c.-481
. . . . . . g.5503
gcgggaaaagcccatgtagttaagcgctttggtttaaaaaaaaggcaaggtaaaggcagg c.-421
. . . . . . g.5563
gctttccagacacatttaggggttcgcgcgagcgctttgtgctcatggaccagccgcaca c.-361
. . . . . . g.5623
acttttgaaggctcgccggcccatgtggggtctttctggcggcgcgccgcctgcagcccc c.-301
. . . . . . g.5683
cctaaagcgcgggggctggagttgttgagcagccccgccgctgtggtccatgtagccgct c.-241
. . . . . . g.5743
ggccgcgcgcggactgcggctcggcgtgcgcgtgttcccggccgtcccgcctcggcgagc c.-181
. . . . . . g.5803
tccctcatgttgtcgccctgcggcgccccttcgacgacaggctgtgcgcggtctgcacgg c.-121
. . . . . . g.5863
cgctccgcggcggagcttcatgtggggctgcgacccgcgcagccggcgcctcgctgaggg c.-61
. . . . . . g.5923
aacggacccccggtaaccggagaccgcctcccccccacccctggcgccaaaggatatcgt c.-1
. . . . . . g.5983
ATGTTCAGGTCCAAACGCTCGGGGCTGGTGCGGCGACTTTGGCGAAGTCGTGTGGTCCCC c.60
M F R S K R S G L V R R L W R S R V V P p.20
. . . . . . g.6043
GACCGGGAGGAAGGCGGCAGCGGCGGCGGCGGTGGCGGCGACGAGGATGGGAGCTTGGGC c.120
D R E E G G S G G G G G G D E D G S L G p.40
. . . . . . g.6103
AGCCGAGCTGAGCCGGCCCCGCGGGCAAGAGAGGGCGGAGGCTGCGGCCGCTCCGAAGTC c.180
S R A E P A P R A R E G G G C G R S E V p.60
. . . . . . g.6163
CGCCCGGTAGCCCCGCGGCGGCCCCGGGACGCAGTGGGACAGCGAGGCGCCCAGGGCGCG c.240
R P V A P R R P R D A V G Q R G A Q G A p.80
. . . . . . g.6223
GGGAGGCGCCGGCGCGCAGGGGGCCCCCCGAGGCCCATGTCGGAGCCAGGGGCCGGCGCT c.300
G R R R R A G G P P R P M S E P G A G A p.100
. . . . . . g.6283
GGGAGCTCCCTGCTGGACGTGGCGGAGCCGGGAGGCCCGGGCTGGCTGCCCGAGAGTGAC c.360
G S S L L D V A E P G G P G W L P E S D p.120
. . . . . . g.6343
TGCGAGACGGTGACCTGCTGTCTCTTTTCGGAGCGGGACGCCGCCGGCGCGCCCCGGGAC c.420
C E T V T C C L F S E R D A A G A P R D p.140
. . . . . . g.6403
GCCAGCGACCCCCTGGCCGGGGCGGCCCTGGAGCCGGCGGGCGGCGGGCGGAGTCGCGAA c.480
A S D P L A G A A L E P A G G G R S R E p.160
. . . . . . g.6463
GCGCGCTCGCGGCTGCTGCTGCTGGAGCAGGAACTCAAAACCGTCACGTACTCGCTGCTG c.540
A R S R L L L L E Q E L K T V T Y S L L p.180
. . . . . . g.6523
AAGCGGCTCAAGGAGCGCTCGCTGGACACGCTGCTGGAGGCGGTGGAGTCCCGCGGCGGC c.600
K R L K E R S L D T L L E A V E S R G G p.200
. . . . . . g.6583
GTGCCGGGCGGCTGCGTGCTGGTGCCGCGCGCCGACCTCCGCCTGGGCGGCCAGCCCGCG c.660
V P G G C V L V P R A D L R L G G Q P A p.220
. . . . . . g.6643
CCGCCGCAGCTGCTGCTCGGCCGCCTCTTTCGCTGGCCCGACCTGCAGCACGCCGTGGAG c.720
P P Q L L L G R L F R W P D L Q H A V E p.240
. . . . . . g.6703
CTGAAGCCCCTGTGCGGCTGCCACAGCTTCGCCGCCGCCGCCGACGGCCCTACCGTGTGC c.780
L K P L C G C H S F A A A A D G P T V C p.260
. . . | 02. . . g.14355
TGCAACCCCTACCACTTCAGCCGGCTCTGCGGGCCCG | AATCTCCGCCACCTCCCTACTCT c.840
C N P Y H F S R L C G P E | S P P P P Y S p.280
. . . | 03 . . . g.19111
CGGCTGTCTCCTCGCGACGAGTACAAGCCACTGG | ATCTGTCCGATTCCACATTGTCTTAC c.900
R L S P R D E Y K P L D | L S D S T L S Y p.300
. . . . . | 04 . g.83669
ACTGAAACGGAGGCTACCAACTCCCTCATCACTGCTCCGGGTGAATTCTCAG | ACGCCAGC c.960
T E T E A T N S L I T A P G E F S D | A S p.320
. . . . . . g.83729
ATGTCTCCGGACGCCACCAAGCCGAGCCACTGGTGCAGCGTGGCGTACTGGGAGCACCGG c.1020
M S P D A T K P S H W C S V A Y W E H R p.340
. . . . . . g.83789
ACGCGCGTGGGCCGCCTCTATGCGGTGTACGACCAGGCCGTCAGCATCTTCTACGACCTA c.1080
T R V G R L Y A V Y D Q A V S I F Y D L p.360
. . . . . . g.83849
CCTCAGGGCAGCGGCTTCTGCCTGGGCCAGCTCAACCTGGAGCAGCGCAGCGAGTCGGTG c.1140
P Q G S G F C L G Q L N L E Q R S E S V p.380
. . . . . . g.83909
CGGCGAACGCGCAGCAAGATCGGCTTCGGCATCCTGCTCAGCAAGGAGCCCGACGGCGTG c.1200
R R T R S K I G F G I L L S K E P D G V p.400
. . . . . . g.83969
TGGGCCTACAACCGCGGCGAGCACCCCATCTTCGTCAACTCCCCGACGCTGGACGCGCCC c.1260
W A Y N R G E H P I F V N S P T L D A P p.420
. . . . . . g.84029
GGCGGCCGCGCCCTGGTCGTGCGCAAGGTGCCCCCCGGCTACTCCATCAAGGTGTTCGAC c.1320
G G R A L V V R K V P P G Y S I K V F D p.440
. . . . . . g.84089
TTCGAGCGCTCGGGCCTGCAGCACGCGCCCGAGCCCGACGCCGCCGACGGCCCCTACGAC c.1380
F E R S G L Q H A P E P D A A D G P Y D p.460
. . . . . . g.84149
CCCAACAGCGTCCGCATCAGCTTCGCCAAGGGCTGGGGGCCCTGCTACTCCCGGCAGTTC c.1440
P N S V R I S F A K G W G P C Y S R Q F p.480
. . . . . g.84200
ATCACCTCCTGCCCCTGCTGGCTGGAGATCCTCCTCAACAACCCCAGATAG c.1491
I T S C P C W L E I L L N N P R X p.496
. . . . . . g.84260
tggcggccccggcgggaggggcgggtgggaggccgcggccaccgccacctgccggcctcg c.*60
. . . . . . g.84320
agaggggccgatgcccagagacacagcccccacggacaaaaccccccagatatcatctac c.*120
. . . . . . g.84380
ctagatttaatataaagttttatatattatatggaaatatatattatacttgtaattatg c.*180
. . . . . . g.84440
gagtcatttttacaatgtaattatttatgtatggtgcaatgtgtgtatatggacaaaaca c.*240
. . . . . . g.84500
agaaagacgcactttggcttataattctttcaatacagatatattttctttctcttcctc c.*300
. . . . . . g.84560
cttcctcttccttactttttatatatatatataaagaaaatgatacagcagagctaggtg c.*360
. . . . . . g.84620
gaaaagcctgggtttggtgtatggtttttgagatattaatgcccagacaaaaagctaata c.*420
. . . . g.84665
ccagtcactcgataataaagtattcgcattatagttttttttaaa c.*465
(downstream sequence)
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