(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005900.2 in the SMAD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering SMAD1 transcript NM_005900.2.
(upstream sequence)
. . . . . g.5056
ggcagctgaggagtggaggctgggcagctccgactccctgacgccagcgcgaccag c.-361
. . . . . . g.5116
atcaatccaggctccaggagaaagcaggcgggcgggcggagaaaggagaggccgagcggc c.-301
. . . . . . g.5176
tcaacccgggccgaggctcggggagcggagagtggcgcagcgcccggccgtccggacccg c.-241
. . . . . . g.5236
ggccgcgagaccccgctcgcccggccactcgtgctcccacacggacgggcgcgccgccaa c.-181
. | 02 . . . . . g.37695
cccg | gtgctgactgggttacttttttaaacactaggaatggtaatttctactcttctgga c.-121
. . . . . . g.37755
cttcaaactaagaagttaaagagacttctctgtaaataaacaaatctcttctgctgtcct c.-61
. . . . . . g.37815
tttgcatttggagacagctttatttcaccatatccaaggagtataactagtgctgtcatt c.-1
. . . . . . g.37875
ATGAATGTGACAAGTTTATTTTCCTTTACAAGTCCAGCTGTGAAGAGACTTCTTGGGTGG c.60
M N V T S L F S F T S P A V K R L L G W p.20
. . . . . . g.37935
AAACAGGGCGATGAAGAAGAAAAATGGGCAGAGAAAGCTGTTGATGCTTTGGTGAAAAAA c.120
K Q G D E E E K W A E K A V D A L V K K p.40
. . . . . . g.37995
CTGAAGAAAAAGAAAGGTGCCATGGAGGAACTGGAAAAGGCCTTGAGCTGCCCAGGGCAA c.180
L K K K K G A M E E L E K A L S C P G Q p.60
. . . . . . g.38055
CCGAGTAACTGTGTCACCATTCCCCGCTCTCTGGATGGCAGGCTGCAAGTCTCCCACCGG c.240
P S N C V T I P R S L D G R L Q V S H R p.80
. . . . . . g.38115
AAGGGACTGCCTCATGTCATTTACTGCCGTGTGTGGCGCTGGCCCGATCTTCAGAGCCAC c.300
K G L P H V I Y C R V W R W P D L Q S H p.100
. . . . . . g.38175
CATGAACTAAAACCACTGGAATGCTGTGAGTTTCCTTTTGGTTCCAAGCAGAAGGAGGTC c.360
H E L K P L E C C E F P F G S K Q K E V p.120
. . . . | 03 . . g.63025
TGCATCAATCCCTACCACTATAAGAGAGTAGAAAGCCCTG | TACTTCCTCCTGTGCTGGTT c.420
C I N P Y H Y K R V E S P V | L P P V L V p.140
. . . . . . g.63085
CCAAGACACAGCGAATATAATCCTCAGCACAGCCTCTTAGCTCAGTTCCGTAACTTAGGA c.480
P R H S E Y N P Q H S L L A Q F R N L G p.160
. . . . . . g.63145
CAAAATGAGCCTCACATGCCACTCAACGCCACTTTTCCAGATTCTTTCCAGCAACCCAAC c.540
Q N E P H M P L N A T F P D S F Q Q P N p.180
. . . . . . g.63205
AGCCACCCGTTTCCTCACTCTCCCAATAGCAGTTACCCAAACTCTCCTGGGAGCAGCAGC c.600
S H P F P H S P N S S Y P N S P G S S S p.200
. . . . . | 04 g.65785
AGCACCTACCCTCACTCTCCCACCAGCTCAGACCCAGGAAGCCCTTTCCAGATGCCAG | CT c.660
S T Y P H S P T S S D P G S P F Q M P A | p.220
. . . . . . g.65845
GATACGCCCCCACCTGCTTACCTGCCTCCTGAAGACCCCATGACCCAGGATGGCTCTCAG c.720
D T P P P A Y L P P E D P M T Q D G S Q p.240
. . . . . | 05 . g.69909
CCGATGGACACAAACATGATGGCGCCTCCCCTGCCCTCAGAAATCAACAGAGGAG | ATGTT c.780
P M D T N M M A P P L P S E I N R G D | V p.260
. . . . . . g.69969
CAGGCGGTTGCTTATGAGGAACCAAAACACTGGTGCTCTATTGTCTACTATGAGCTCAAC c.840
Q A V A Y E E P K H W C S I V Y Y E L N p.280
. . . . . . g.70029
AATCGTGTGGGTGAAGCGTTCCATGCCTCCTCCACAAGTGTGTTGGTGGATGGTTTCACT c.900
N R V G E A F H A S S T S V L V D G F T p.300
. . . . . . g.70089
GATCCTTCCAACAATAAGAACCGTTTCTGCCTTGGGCTGCTCTCCAATGTTAACCGGAAT c.960
D P S N N K N R F C L G L L S N V N R N p.320
. . . | 06. . . g.77008
TCCACTATTGAAAACACCAGGCGGCATATTGGAAAAG | GAGTTCATCTTTATTATGTTGGA c.1020
S T I E N T R R H I G K G | V H L Y Y V G p.340
. . . . . . g.77068
GGGGAGGTGTATGCCGAATGCCTTAGTGACAGTAGCATCTTTGTGCAAAGTCGGAACTGC c.1080
G E V Y A E C L S D S S I F V Q S R N C p.360
. . . . . . g.77128
AACTACCATCATGGATTTCATCCTACTACTGTTTGCAAGATCCCTAGTGGGTGTAGTCTG c.1140
N Y H H G F H P T T V C K I P S G C S L p.380
. . . . . . g.77188
AAAATTTTTAACAACCAAGAATTTGCTCAGTTATTGGCACAGTCTGTGAACCATGGATTT c.1200
K I F N N Q E F A Q L L A Q S V N H G F p.400
. . . . . | 07 . g.80998
GAGACAGTCTATGAGCTTACAAAAATGTGTACTATACGTATGAGCTTTGTGAAG | GGCTGG c.1260
E T V Y E L T K M C T I R M S F V K | G W p.420
. . . . . . g.81058
GGAGCAGAATACCACCGCCAGGATGTTACTAGCACCCCCTGCTGGATTGAGATACATCTG c.1320
G A E Y H R Q D V T S T P C W I E I H L p.440
. . . . . . g.81118
CACGGCCCCCTCCAGTGGCTGGATAAAGTTCTTACTCAAATGGGTTCACCTCATAATCCT c.1380
H G P L Q W L D K V L T Q M G S P H N P p.460
. g.81136
ATTTCATCTGTATCTTAA c.1398
I S S V S X p.465
. . . . . . g.81196
atggccccaggcatctgcctctggaaaactattgagccttgcatgtacttgaaggatgga c.*60
. . . . . . g.81256
tgagtcagacacgattgagaactgacaaaggagccttgataatacttgacctctgtgacc c.*120
. . . . . . g.81316
aactgttggattcagaaatttaaacaaaaaaaaaaaaaaacacacacaccttggtaacat c.*180
. . . . . . g.81376
actgttgatatcaagaacctgtttagtttacattgtaacattctattgtaaaatcaacta c.*240
. . . . . . g.81436
aaattcagacttttagcaggactttgtgtacagttaaaggagagatggccaagccaggga c.*300
. . . . . . g.81496
caaattgtctattagaaaacggtcctaagagattctttggtgtttggcactttaaggtca c.*360
. . . . . . g.81556
tcgttgggcagaagtttagcattaatagttgttctgaaacgtgttttatcaggtttagag c.*420
. . . . . . g.81616
cccatgttgagtcttcttttcatgggttttcataatattttaaaactatttgtttagcga c.*480
. . . . . . g.81676
tggttttgttcgtttaagtaaaggttaatcttgatgatatacataataatctttctaaaa c.*540
. . . . . . g.81736
ttgtatgctgaccatacttgctgtcagaataatgctaggcatatgctttttgctaaatat c.*600
. . . . . . g.81796
gtatgtacagagtatttggaagttaagaattgattagactagtgaatttaggagtatttg c.*660
. . . . . . g.81856
aggtgggtggggggaagagggaaatgacaactgcaaatgtagactatactgtaaaaattc c.*720
. . . . . . g.81916
agtttgttgctttaaagaaacaaactgatacctgaattttgctgtgtttccattttttag c.*780
. . . . . . g.81976
agatttttatcatttttttctctctcggcattcttttttctcatactcttcaaaaagcag c.*840
. . . . . . g.82036
ttctgcagctggttaattcatgtaactgtgagagcaaatgaataattcctgctattctga c.*900
. . . . . . g.82096
aattgcctacatgtttcaataccagttatatggagtgcttgaatttaataagcagttttt c.*960
. . . . . . g.82156
acggagtttacagtacagaaataggctttaattttcaagtgaattttttgccaaacttag c.*1020
. . . . . . g.82216
taactctgttaaatatttggaggatttaaagaacatcccagtttgaattcatttcaaact c.*1080
. . . . . . g.82276
ttttaaatttttttgtactatgtttggttttattttccttctgttaatcttttgtattca c.*1140
. . . . . . g.82336
cttatgctctcgtacattgagtacttttattccaaaactagtgggttttctctactggaa c.*1200
. . . . g.82378
attttcaataaacctgtcattattgcttactttgattaaaaa c.*1242
(downstream sequence)
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