(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the FOXN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering FOXN1 transcript NM_003593.2.
(upstream sequence)
. . g.1029
acggctttctttgaggccaggactgggtg c.-1
. . . . . . g.1089
ATGGTGTCGCTACCCCCGCCGCAGTCTGACGTCACGCTGCCGGGCCCCACCAGACTGGAG c.60
M V S L P P P Q S D V T L P G P T R L E p.20
. . . . . . g.1149
GGCGAGCGCCAAGGGGACCTCATGCAGGCACCGGGCCTCCCAGGCTCCCCTGCCCCACAG c.120
G E R Q G D L M Q A P G L P G S P A P Q p.40
| 02 . . . . . . g.1619
AGT | AAGCATGCCGGCTTCAGCTGCTCGTCATTTGTGTCCGACGGCCCTCCAGAGAGGACA c.180
S | K H A G F S C S S F V S D G P P E R T p.60
. . . . . . g.1679
CCCTCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCCCGAGCAAGTCCAGGGC c.240
P S L P P H S P R I A S P G P E Q V Q G p.80
. . . . . . g.1739
CACTGCCCAGCCGGCCCCGGCCCTGGGCCCTTCAGGCTCTCACCCTCAGACAAGTATCCT c.300
H C P A G P G P G P F R L S P S D K Y P p.100
. . . . . . g.1799
GGCTTTGGCTTTGAGGAGGCCGCAGCAAGCAGCCCTGGGCGATTCCTCAAGGGCAGCCAC c.360
G F G F E E A A A S S P G R F L K G S H p.120
. . . . . . g.1859
GCGCCCTTCCACCCGTACAAGCGGCCTTTCCATGAGGACGTCTTCCCAGAGGCCGAGACC c.420
A P F H P Y K R P F H E D V F P E A E T p.140
. . . . . . g.1919
ACCCTGGCCCTCAAAGGACACTCCTTTAAGACCCCAGGGCCGCTGGAGGCCTTCGAGGAG c.480
T L A L K G H S F K T P G P L E A F E E p.160
. . . . . . g.1979
ATCCCAGTGGACGTGGCGGAGGCCGAGGCCTTCCTGCCTGGCTTCTCAGCAGAGGCCTGG c.540
I P V D V A E A E A F L P G F S A E A W p.180
. . . . | 03 . g.4322
TGTAACGGGCTCCCCTACCCCAGCCAGGAGCATGGCCCCCAAGTCCTG | GGTTCAGAGGTC c.600
C N G L P Y P S Q E H G P Q V L | G S E V p.200
. . . . . . g.4382
AAAGTCAAGCCCCCAGTTCTGGAGAGTGGTGCTGGGATGTTCTGCTACCAGCCTCCCTTG c.660
K V K P P V L E S G A G M F C Y Q P P L p.220
. . . | 04 . . g.6174
CAGCATATGTACTGCTCCTCCCAGCCCCCCTTCCACCAG | TACTCGCCAGGTGGTGGCAGC c.720
Q H M Y C S S Q P P F H Q | Y S P G G G S p.240
. . . . . . g.6234
TACCCCATACCCTACCTGGGCTCCTCACACTATCAGTACCAGCGAATGGCACCCCAGGCC c.780
Y P I P Y L G S S H Y Q Y Q R M A P Q A p.260
. . . . . | 05 . g.7818
AGCACCGATGGGCACCAGCCTCTCTTCCCAAAACCCATCTATTCCTACAG | CATCCTCATC c.840
S T D G H Q P L F P K P I Y S Y S | I L I p.280
. . . . . . g.7878
TTCATGGCCCTTAAGAACAGTAAAACTGGGAGCCTTCCCGTCAGCGAGATCTACAATTTT c.900
F M A L K N S K T G S L P V S E I Y N F p.300
. . | 06. . . . g.11423
ATGACGGAGCACTTTCCTTACTTCAAG | ACAGCACCCGATGGCTGGAAGAATTCTGTCCGG c.960
M T E H F P Y F K | T A P D G W K N S V R p.320
. . . . . . g.11483
CACAACCTATCCCTCAACAAGTGCTTCGAGAAGGTGGAGAACAAATCAGGAAGTTCCTCC c.1020
H N L S L N K C F E K V E N K S G S S S p.340
. . . . . . g.11543
CGCAAGGGCTGCCTGTGGGCCCTCAATCCGGCCAAGATCGACAAGATGCAAGAGGAGCTG c.1080
R K G C L W A L N P A K I D K M Q E E L p.360
. . . . . | 07 . g.11771
CAAAAATGGAAGAGGAAAGATCCCATTGCTGTGCGCAAAAGCATGGCCAAGCCAG | AAGAG c.1140
Q K W K R K D P I A V R K S M A K P E | E p.380
. . . . . . g.11831
CTGGACAGCCTCATTGGAGACAAGAGAGAAAAGCTGGGCTCCCCACTCCTGGGCTGTCCG c.1200
L D S L I G D K R E K L G S P L L G C P p.400
. . . . . . g.11891
CCCCCTGGGCTGTCCGGCTCAGGCCCCATCCGGCCCCTGGCACCCCCAGCTGGCCTCTCC c.1260
P P G L S G S G P I R P L A P P A G L S p.420
. . . . . . g.11951
CCACCACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCAAGAACCCCCTGCAG c.1320
P P L H S L H P A P G P I P G K N P L Q p.440
. . . . . . g.12011
GACCTACTTATGGGGCACACACCCTCCTGCTATGGGCAGACATACTTGCACCTCTCACCA c.1380
D L L M G H T P S C Y G Q T Y L H L S P p.460
. . . . . . g.12071
GGCCTGGCCCCTCCTGGACCCCCGCAGCCATTGTTCCCACAGCCGGACGGGCACCTTGAG c.1440
G L A P P G P P Q P L F P Q P D G H L E p.480
. . . . . . g.12131
CTGCGGGCCCAGCCAGGCACCCCCCAGGACTCGCCTCTGCCTGCCCACACCCCACCCAGC c.1500
L R A Q P G T P Q D S P L P A H T P P S p.500
. . . . . . g.12191
CACAGTGCCAAGCTACTGGCCGAGCCTTCCCCAGCCAGGACTATGCACGACACCCTGCTG c.1560
H S A K L L A E P S P A R T M H D T L L p.520
. . . . . . g.12251
CCAGATGGAGACCTTGGCACTGACCTGGATGCCATCAATCCCTCACTCACTGACTTCGAC c.1620
P D G D L G T D L D A I N P S L T D F D p.540
| 08. . . . . . g.14229
TTCCAGG | GAAACCTGTGGGAACAGTTGAAGGATGATAGCTTGGCCCTCGACCCCCTGGTA c.1680
F Q G | N L W E Q L K D D S L A L D P L V p.560
. . . . . . g.14289
CTGGTGACCTCATCCCCGACATCATCTTCGATGCCACCACCCCAGCCACCACCTCACTGC c.1740
L V T S S P T S S S M P P P Q P P P H C p.580
. . . . . . g.14349
TTCCCCCCTGGGCCCTGTCTGACAGAGACAGGCAGTGGGGCAGGTGACTTGGCAGCCCCG c.1800
F P P G P C L T E T G S G A G D L A A P p.600
. . . . . . g.14409
GGCAGTGGTGGCTCCGGGGCACTGGGTGACCTGCACCTCACCACCCTCTACTCTGCCTTT c.1860
G S G G S G A L G D L H L T T L Y S A F p.620
. . . . . . g.14469
ATGGAGCTGGAGCCCACGCCCCCCACGGCCCCTGCAGGCCCCTCTGTGTACCTCAGCCCC c.1920
M E L E P T P P T A P A G P S V Y L S P p.640
. . g.14496
AGCTCCAAGCCCGTGGCCCTGGCATGA c.1947
S S K P V A L A X p.648
. . . . . . g.14556
gctgtgcccagcttcgtcagctccagcgtttgcctggtctggaagtcctggccggccgcc c.*60
. . . . . . g.14616
cacatcgggctcaccttaaaggtcaaggaaggaaaatactacctgtcccctatgccacta c.*120
. . . . . . g.14676
agccaacgtgtgtgtcagctggtagctgggggcgcagaggacatcacctggggtgctgcc c.*180
. . . . . . g.14736
tctcacacatttctgccacgtggtggcccagctcctcacccagggcccccaaagagcaag c.*240
. . . . . . g.14796
cgtctgggcaagaggaaaatgccctgtccctagctcacactcatccacacttaagccctc c.*300
. . . . . . g.14856
gtgcacacacacaaattattcagatgtacacccacccacatatcttacagccagaggaac c.*360
. . . . . . g.14916
cagcactccatcactgagagcccgacttcgtttctggggcaactgagagctgagcgcttt c.*420
. . . . . . g.14976
gcttaccaaaagctcagggccctgtgccaggccaaagatccccccagacccccattctga c.*480
. . . . . . g.15036
catccacatgctctgcagtcctggccccctcgtcattttctttcccagaagcgccctgta c.*540
. . . . . . g.15096
tttattcccccatcttcatcccaacagcccagcaagaaggaggagacagagagctcctcc c.*600
. . . . . . g.15156
ctgggttgtctgtggacccccccaggagctgctaattggcagcacccactcagccattct c.*660
. . . . . . g.15216
ctacccatccttagtacatgctctgtccagctttccccagggtgacatacagaaggggca c.*720
g.15217
a c.*721
(downstream sequence)
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