(used for variant description)
(last modified November 18, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_012183.2 in the FOXD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FOXD3 transcript NM_012183.2.
(upstream sequence)
. . . . . . g.60
ATGACCCTCTCCGGCGGCGGCAGCGCCAGCGACATGTCCGGCCAGACGGTGCTGACGGCC c.60
M T L S G G G S A S D M S G Q T V L T A p.20
. . . . . . g.120
GAGGACGTGGACATCGATGTGGTGGGCGAGGGCGACGACGGGCTGGAAGAGAAGGACAGC c.120
E D V D I D V V G E G D D G L E E K D S p.40
. . . . . . g.180
GACGCAGGTTGCGATAGCCCCGCGGGGCCGCCGGAGCTGCGCCTGGACGAGGCGGACGAG c.180
D A G C D S P A G P P E L R L D E A D E p.60
. . . . . . g.240
GTGCCCCCGGCGGCACCCCATCACGGACAGCCTCAGCCGCCCCACCAGCAGCCCCTGACA c.240
V P P A A P H H G Q P Q P P H Q Q P L T p.80
. . . . . . g.300
TTGCCCAAGGAGGCGGCCGGAGCCGGGGCCGGACCGGGGGGCGACGTGGGCGCGCCGGAG c.300
L P K E A A G A G A G P G G D V G A P E p.100
. . . . . . g.360
GCGGACGGCTGCAAGGGCGGTGTTGGCGGCGAGGAGGGCGGCGCGAGCGGCGGCGGGCCT c.360
A D G C K G G V G G E E G G A S G G G P p.120
. . . . . . g.420
GGCGCGGGCAGCGGTTCGGCGGGAGGCCTGGCCCCGAGCAAGCCCAAGAACAGCCTAGTG c.420
G A G S G S A G G L A P S K P K N S L V p.140
. . . . . . g.480
AAGCCGCCTTACTCGTACATCGCGCTCATCACCATGGCCATCCTGCAGAGCCCGCAGAAG c.480
K P P Y S Y I A L I T M A I L Q S P Q K p.160
. . . . . . g.540
AAGCTGACCCTGAGCGGCATCTGCGAGTTCATCAGCAACCGCTTCCCCTACTACAGGGAG c.540
K L T L S G I C E F I S N R F P Y Y R E p.180
. . . . . . g.600
AAGTTCCCCGCCTGGCAGAACAGCATCCGCCACAACCTCTCACTCAACGACTGCTTCGTC c.600
K F P A W Q N S I R H N L S L N D C F V p.200
. . . . . . g.660
AAGATCCCCCGCGAGCCGGGCAACCCGGGCAAGGGCAACTACTGGACCCTGGACCCGCAG c.660
K I P R E P G N P G K G N Y W T L D P Q p.220
. . . . . . g.720
TCCGAGGACATGTTCGACAACGGCAGCTTCCTGCGGCGCCGGAAACGCTTCAAGCGCCAC c.720
S E D M F D N G S F L R R R K R F K R H p.240
. . . . . . g.780
CAGCAGGAGCACCTGCGCGAGCAGACGGCGCTCATGATGCAGAGCTTCGGCGCTTACAGC c.780
Q Q E H L R E Q T A L M M Q S F G A Y S p.260
. . . . . . g.840
CTGGCGGCGGCGGCCGGCGCCGCGGGACCCTACGGCCGCCCCTACGGCCTGCACCCTGCG c.840
L A A A A G A A G P Y G R P Y G L H P A p.280
. . . . . . g.900
GCGGCGGCCGGTGCCTATTCGCACCCGGCAGCGGCGGCGGCCGCGGCTGCTGCGGCGGCG c.900
A A A G A Y S H P A A A A A A A A A A A p.300
. . . . . . g.960
CTCCAGTACCCGTACGCGCTGCCGCCGGTGGCACCGGTGCTGCCTCCCGCTGTGCCGCTG c.960
L Q Y P Y A L P P V A P V L P P A V P L p.320
. . . . . . g.1020
CTGCCCTCGGGCGAGCTGGGCCGCAAAGCGGCCGCCTTCGGCTCACAGCTCGGCCCGGGC c.1020
L P S G E L G R K A A A F G S Q L G P G p.340
. . . . . . g.1080
CTGCAGCTGCAGCTCAATAGCCTGGGCGCCGCCGCGGCCGCTGCGGGCACAGCGGGCGCC c.1080
L Q L Q L N S L G A A A A A A G T A G A p.360
. . . . . . g.1140
GCGGGCACCACCGCGTCGCTCATCAAGTCCGAGCCAAGCGCGCGGCCGTCGTTCAGCATC c.1140
A G T T A S L I K S E P S A R P S F S I p.380
. . . . . . g.1200
GAGAACATCATAGGTGGGGGCCCCGCGGCTCCTGGGGGCTCGGCGGTGGGCGCTGGGGTC c.1200
E N I I G G G P A A P G G S A V G A G V p.400
. . . . . . g.1260
GCCGGCGGCACTGGGGGTTCAGGGGGCGGCAGCACGGCGCAGTCGTTTCTGCGGCCACCC c.1260
A G G T G G S G G G S T A Q S F L R P P p.420
. . . . . . g.1320
GGGACCGTGCAGTCGGCAGCGCTCATGGCCACCCACCAACCGCTGTCGCTGAGCCGGACG c.1320
G T V Q S A A L M A T H Q P L S L S R T p.440
. . . . . . g.1380
ACTGCCACCATCGCGCCCATTCTTAGCGTGCCACTCTCCGGACAGTTTCTGCAGCCCGCA c.1380
T A T I A P I L S V P L S G Q F L Q P A p.460
. . . . . g.1437
GCCTCGGCCGCCGCCGCTGCTGCGGCCGCCGCTCAAGCCAAATGGCCGGCGCAATAG c.1437
A S A A A A A A A A A Q A K W P A Q X p.478
. . . . . . g.1497
ggacgcgccaatggccgggacccagggtccggcggcggcctcgagcaacaaatgcacctc c.*60
. . . . . . g.1557
caggctgcgcgccctgtcccaagcccggtcccggtcccgctgcccaatcctggactctgc c.*120
. . . . . . g.1617
ctctccccaatttcctttcccctgagcccccaacgcctaccttccgcggcctccatcccc c.*180
. . . . . . g.1677
tcgcgcacacctaagctggtcgagcaaactcaccgcgcgcccgccggggatagctttcca c.*240
. . . . . . g.1737
tacaggtaaaaccgaaaaccgaattttccaaaaatgcaccccgacggcgcctgctcttag c.*300
. . . . . . g.1797
taccgtggggatgggagggaaattctttgtatatatttgtaaaaaaattattgactttcc c.*360
. . . . . . g.1857
ttttggggtttttatttttttaagaaaaaacaaattccgtagatttagagctctgaactt c.*420
. . . . . . g.1917
tcattttttttgaaggttcactctccgaagttttatctgagaaaagaatgtatagagacg c.*480
. . . . . . g.1977
ttgggagattttaaatataaaaaattttcaaaaaggcaaaaagtgtcattctattataaa c.*540
. . . . . . g.2037
agtctgtttatatatgaatgaatatatatggtattctaaatgttattccatcgtgttgta c.*600
. . . g.2068
cacaactttgtaaataaatttttaaaatgcc c.*631
(downstream sequence)
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