(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IKBKG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering IKBKG transcript NM_001099856.2.
(upstream sequence)
. . g.1020
cctgaacgcccatcaagccc c.-1
. . . . . . g.1080
ATGGCCCTTGTGATCCAGGTGGGGAAACTAAGGCCCAGAGAAGTGAGGACCCCGCAGACT c.60
M A L V I Q V G K L R P R E V R T P Q T p.20
. . . . . . g.1140
ATCAATCCCAGTCTCTTCCCCTCACTCCCTGTGAAGCTCTCCAGCATCATCGAGGTCCCA c.120
I N P S L F P S L P V K L S S I I E V P p.40
. . . . . . g.1200
TCAGGTGGGGAAAGATGCTGTTCCAGGCGCACACTAGTCTACAAGGCCAGAGCTTTCTGG c.180
S G G E R C C S R R T L V Y K A R A F W p.60
| 02 . . . . . g.10795
AAGGGGGCA | CCCTTGCCCTGTTGGATGAATAGGCACCTCTGGAAGAGCCAACTGTGTGAG c.240
K G A | P L P C W M N R H L W K S Q L C E p.80
. . . . . . g.10855
ATGGTGCAGCCCAGTGGTGGCCCGGCAGCAGATCAGGACGTACTGGGCGAAGAGTCTCCT c.300
M V Q P S G G P A A D Q D V L G E E S P p.100
. . . . . . g.10915
CTGGGGAAGCCAGCCATGCTGCACCTGCCTTCAGAACAGGGCGCTCCTGAGACCCTCCAG c.360
L G K P A M L H L P S E Q G A P E T L Q p.120
. . . | 03 . . . g.14950
CGCTGCCTGGAGGAGAATCAAGAGCTCCGAG | ATGCCATCCGGCAGAGCAACCAGATTCTG c.420
R C L E E N Q E L R D | A I R Q S N Q I L p.140
. . . . . . g.15010
CGGGAGCGCTGCGAGGAGCTTCTGCATTTCCAAGCCAGCCAGAGGGAGGAGAAGGAGTTC c.480
R E R C E E L L H F Q A S Q R E E K E F p.160
. . . . . . g.15070
CTCATGTGCAAGTTCCAGGAGGCCAGGAAACTGGTGGAGAGACTCGGCCTGGAGAAGCTC c.540
L M C K F Q E A R K L V E R L G L E K L p.180
. . . . . . g.15130
GATCTGAAGAGGCAGAAGGAGCAGGCTCTGCGGGAGGTGGAGCACCTGAAGAGATGCCAG c.600
D L K R Q K E Q A L R E V E H L K R C Q p.200
| 04 . . . . . . g.17345
CAG | CAGATGGCTGAGGACAAGGCCTCTGTGAAAGCCCAGGTGACGTCCTTGCTCGGGGAG c.660
Q | Q M A E D K A S V K A Q V T S L L G E p.220
. . . . . . g.17405
CTGCAGGAGAGCCAGAGTCGCTTGGAGGCTGCCACTAAGGAATGCCAGGCTCTGGAGGGT c.720
L Q E S Q S R L E A A T K E C Q A L E G p.240
| 05 . . . . . . g.19221
CG | GGCCCGGGCGGCCAGCGAGCAGGCGCGGCAGCTGGAGAGTGAGCGCGAGGCGCTGCAG c.780
R | A R A A S E Q A R Q L E S E R E A L Q p.260
. . . . . . g.19281
CAGCAGCACAGCGTGCAGGTGGACCAGCTGCGCATGCAGGGCCAGAGCGTGGAGGCCGCG c.840
Q Q H S V Q V D Q L R M Q G Q S V E A A p.280
. . . | 06 . . . g.20469
CTCCGCATGGAGCGCCAGGCCGCCTCGGAGGAGAA | GAGGAAGCTGGCCCAGTTGCAGGTG c.900
L R M E R Q A A S E E K | R K L A Q L Q V p.300
. . . . . . g.20529
GCCTATCACCAGCTCTTCCAAGAATACGACAACCACATCAAGAGCAGCGTGGTGGGCAGT c.960
A Y H Q L F Q E Y D N H I K S S V V G S p.320
. | 07 . . . . . g.21614
GAGCGGAAGCGA | GGAATGCAGCTGGAAGATCTCAAACAGCAGCTCCAGCAGGCCGAGGAG c.1020
E R K R | G M Q L E D L K Q Q L Q Q A E E p.340
. . . . . . g.21674
GCCCTGGTGGCCAAACAGGAGGTGATCGATAAGCTGAAGGAGGAGGCCGAGCAGCACAAG c.1080
A L V A K Q E V I D K L K E E A E Q H K p.360
. . . | 08 . . . g.22339
ATTGTGATGGAGACCGTTCCGGTGCTGAAGGCCCAG | GCGGATATCTACAAGGCGGACTTC c.1140
I V M E T V P V L K A Q | A D I Y K A D F p.380
. . . . . . g.22399
CAGGCTGAGAGGCAGGCCCGGGAGAAGCTGGCCGAGAAGAAGGAGCTCCTGCAGGAGCAG c.1200
Q A E R Q A R E K L A E K K E L L Q E Q p.400
. . . . . | 09 g.22716
CTGGAGCAGCTGCAGAGGGAGTACAGCAAACTGAAGGCCAGCTGTCAGGAGTCGGCCAG | G c.1260
L E Q L Q R E Y S K L K A S C Q E S A R | p.420
. . . . . . g.22776
ATCGAGGACATGAGGAAGCGGCATGTCGAGGTCTCCCAGGCCCCCTTGCCCCCCGCCCCT c.1320
I E D M R K R H V E V S Q A P L P P A P p.440
| 10 . . . . . . g.23134
G | CCTACCTCTCCTCTCCCCTGGCCCTGCCCAGCCAGAGGAGGAGCCCCCCCGAGGAGCCA c.1380
A | Y L S S P L A L P S Q R R S P P E E P p.460
. . . . . . g.23194
CCTGACTTCTGCTGTCCCAAGTGCCAGTATCAGGCCCCTGATATGGACACCCTGCAGATA c.1440
P D F C C P K C Q Y Q A P D M D T L Q I p.480
. . g.23218
CATGTCATGGAGTGCATTGAGTAG c.1464
H V M E C I E X p.487
. . . . . . g.23278
ggccggccagtgcaaggccactgcctgccgaggacgtgcccgggaccgtgcagtctgcgc c.*60
. . . . . . g.23338
tttcctctcccgcctgcctagcccaggatgaagggctgggtggccacaactgggatgcca c.*120
. . . . . . g.23398
cctggagccccacccaggagctggccgcggcaccttacgcttcagctgttgatccgctgg c.*180
. . . . . . g.23458
tcccctcttttggggtagatgcggccccgatcaggcctgactcgctgctctttttgttcc c.*240
. . . . . . g.23518
cttctgtctgctcgaaccacttgcctcgggctaatccctccctcttcctccacccggcac c.*300
. . . . . . g.23578
tggggaagtcaagaatggggcctggggctctcagggagaactgcttcccctggcagagct c.*360
. . . . . . g.23638
gggtggcagctcttcctcccaccggacaccgacccgcccgctgctgtgccctgggagtgc c.*420
. . . . . . g.23698
tgccctcttaccatgcacacgggtgctctccttttgggctgcatgctattccattttgca c.*480
. . . . . . g.23758
gccagaccgatgtgtatttaaccagtcactattgatggacatttgggttgtttcccatct c.*540
. . . . g.23803
ttttgttaccataaataatggcatagtaaaaatccttgtgcatta c.*585
(downstream sequence)
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