(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the AIRE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering AIRE transcript NM_000383.2.
(upstream sequence)
g.1007
agacggg c.-121
. . . . . . g.1067
cgggcgcacagccggcgcggaggccccacagccccgccgggacccgaggccaagcgaggg c.-61
. . . . . . g.1127
gctgccagtgtcccgggacccaccgcgtccgccccagccccgggtccccgcgcccacccc c.-1
. . . . . . g.1187
ATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTG c.60
M A T D A A L R R L L R L H R T E I A V p.20
. . . . . . g.1247
GCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAG c.120
A V D S A F P L L H A L A D H D V V P E p.40
. | 02 . . . . . g.1725
GACAAGTTTCAG | GAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCAC c.180
D K F Q | E T L H L K E K E G C P Q A F H p.60
. . . . . . g.1785
GCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTG c.240
A L L S W L L T Q D S T A I L D F W R V p.80
. . . . . . g.1845
CTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTC c.300
L F K D Y N L E R Y G R L Q P I L D S F p.100
| 03. . . . . . g.2151
CCCAAAG | ATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAG c.360
P K D | V D L S Q P R K G R K P P A V P K p.120
. . . . . . g.2211
GCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCT c.420
A L V P P P R L P T K R K A S E E A R A p.140
. . . . | 04 . . g.2654
GCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAG | GCTCTCAACTGAAGGCC c.480
A A P A A L T P R G T A S P G | S Q L K A p.160
. . . . . | 05 g.3467
AAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACG | GG c.540
K P P K K P E S S A E Q Q R L P L G N G | p.180
. . . . . . g.3527
ATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCG c.600
I Q T M S A S V Q R A V A M S S G D V P p.200
. . . . . | 06 . g.4785
GGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAG | GCGGCTCC c.660
G A R G A V E G I L I Q Q V F E S G | G S p.220
. . . . . . g.4845
AAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGC c.720
K K C I Q V G G E F Y T P S K F E D S G p.240
. . . . . . g.4905
AGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGA c.780
S G K N K A R S S S G P K P L V R A K G p.260
. | 07 . . . . g.5150
GCCCAGGGCGCTGCCCCC | GGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCC c.840
A Q G A A P | G G G E A R L G Q Q G S V P p.280
. . . | 08 . . g.6236
GCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAG | AAGAATGAGGACGAGTGTGCC c.900
A P L A L P S D P Q L H Q | K N E D E C A p.300
. . . . . . g.6296
GTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTG c.960
V C R D G G E L I C C D G C P R A F H L p.320
. . . | 09 . . . g.7447
GCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAG | TGGGACCTGGAGGTGCTCCAGCTGC c.1020
A C L S P P L R E I P S | G T W R C S S C p.340
. . . . . . g.7507
CTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCA c.1080
L Q A T V Q E V Q P R A E E P R P Q E P p.360
. | 10 . . . . . g.8158
CCCGTGGAGACCCCG | CTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCA c.1140
P V E T P | L P P G L R S A G E E V R G P p.380
. . . . . . g.8218
CCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCG c.1200
P G E P L A G M D T T L V Y K H L P A P p.400
. . . . . . g.8278
CCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTG c.1260
P S A A P L P G L D S S A L H P L L C V p.420
. | 11 . . . . g.8951
GGTCCTGAGGGTCAGCAG | AACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGT c.1320
G P E G Q Q | N L A P G A R C G V C G D G p.440
. . . . . . g.9011
ACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCA c.1380
T D V L R C T H C A A A F H W R C H F P p.460
. . | 12 . . . . g.9561
GCCGGCACCTCCCGGCCCGG | GACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACC c.1440
A G T S R P G | T G L R C R S C S G D V T p.480
. . . . . . g.9621
CCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCC c.1500
P A P V E G V L A P S P A R L A P G P A p.500
| 13 . . . . . . g.11560
AAG | GATGACACTGCCAGTCACGAGCCCGCTCTGCACAGGGATGACCTGGAGTCCCTTCTG c.1560
K | D D T A S H E P A L H R D D L E S L L p.520
| 14 . . . . . . g.12830
AGCGAG | CACACCTTCGATGGCATCCTGCAGTGGGCCATCCAGAGCATGGCCCGTCCGGCG c.1620
S E | H T F D G I L Q W A I Q S M A R P A p.540
. g.12848
GCCCCCTTCCCCTCCTGA c.1638
A P F P S X p.545
. . . . . . g.12908
ccccagatggccgggacatgcagctctgatgagagagtgctgagaaggacacctccttcc c.*60
. . . . . . g.12968
tcagtcctggaagccggccggctgggatcaagaaggggacagcgccacctcttgtcagtg c.*120
. . . . . . g.13028
ctcggctgtaaacagctctgtgtttctggggacaccagccatcatgtgcctggaaattaa c.*180
. . . . . . g.13088
accctgccccacttctctactctggaagtccccgggagcctctccttgcctggtgaccta c.*240
. . . . . . g.13148
ctaaaaatataaaaattagctgggtgtggtggtgggtgcctgtaatcccagctacatggg c.*300
. . . . . . g.13208
agcctgaggcatgagaatcacttgaactcgggaggtggaggttgcagtgagctgagattg c.*360
. . . . . . g.13268
cgccactgcactccagtctggtcggcaagagtgagactccgtctcaaaaacaaaacaaaa c.*420
. . . . . . g.13328
caaaaaaaccacataacataaatttatcatctcgaccacttttcagttcagtggcattca c.*480
. g.13340
catctcatgtaa c.*492
(downstream sequence)
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