(used for mutation description)
(last modified December 11, 2010)
This file was created to facilitate the description of sequence variants in the KBTBD13 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_021411.1, covering KBTBD13 transcript NM_001101362.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . . g.60
ATGGCACGGGGTCCACAGACCCTGGTGCAGGTGTGGGTGGGCGGCCAGCTCTTCCAAGCC c.60
M A R G P Q T L V Q V W V G G Q L F Q A p.20
. . . . . . g.120
GACCGCGCCCTGCTGGTGGAGCACTGTGGCTTCTTCCGAGGCCTCTTCCGCTCCGGCATG c.120
D R A L L V E H C G F F R G L F R S G M p.40
. . . . . . g.180
CGGGAGACCCGCGCAGCAGAGGTGCGCCTGGGCGTTCTGAGCGCGGGAGGTTTCCGCGCC c.180
R E T R A A E V R L G V L S A G G F R A p.60
. . . . . . g.240
ACGCTGCAGGTGCTGCGCGGCGACCGGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAG c.240
T L Q V L R G D R P A L A A E D E L L Q p.80
. . . . . . g.300
GCCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCTCGCTTTCTGGAGCACAAC c.300
A V E C A A F L Q A P A L A R F L E H N p.100
. . . . . . g.360
CTCACGTCGGACAACTGCGCATTGCTGTGCGACGCGGCCGCCGCCTTCGGCCTGCGCGAC c.360
L T S D N C A L L C D A A A A F G L R D p.120
. . . . . . g.420
GTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGGCGAGCGCGAGCTGGCGGCCGAACTG c.420
V F H S A A L F I C D G E R E L A A E L p.140
. . . . . . g.480
GCGCTGCCTGAGGCCCGCGCCTACGTGGCGGCCCTGCGGCCCAGCAGCTACGCGGCCGTG c.480
A L P E A R A Y V A A L R P S S Y A A V p.160
. . . . . . g.540
AGCACGCACACGCCCGCGCCCGGCTTCCTGGAGGACGCCTCGCGCACGCTGTGTTACCTG c.540
S T H T P A P G F L E D A S R T L C Y L p.180
. . . . . . g.600
GACGAGGAAGAGGACGCGTGGCGCACGCTGGCTGCGCTGCCCCTGGAGGCCAGCACGTTG c.600
D E E E D A W R T L A A L P L E A S T L p.200
. . . . . . g.660
CTGGCCGGGGTGGCCACGCTGGGCAACAAGCTTTACATCGTGGGGGGCGTGCGCGGCGCC c.660
L A G V A T L G N K L Y I V G G V R G A p.220
. . . . . . g.720
AGCAAGGAGGTGGTAGAGCTGGGCTTCTGCTACGACCCCGACGGCGGCACGTGGCACGAG c.720
S K E V V E L G F C Y D P D G G T W H E p.240
. . . . . . g.780
TTCCCCAGCCCGCACCAGCCGCGCTATGACACAGCGCTGGCCGGCTTCGACGGCCGCCTC c.780
F P S P H Q P R Y D T A L A G F D G R L p.260
. . . . . . g.840
TACGCCATCGGCGGCGAATTCCAGAGGACGCCCATCAGCTCCGTGGAGCGCTACGACCCA c.840
Y A I G G E F Q R T P I S S V E R Y D P p.280
. . . . . . g.900
GCCGCGGGCTGCTGGAGTTTCGTGGCCGACCTGCCGCAGCCGGCCGCCGGCGTGCCCTGC c.900
A A G C W S F V A D L P Q P A A G V P C p.300
. . . . . . g.960
GCCCAGGCTTGTGGCCGTCTCTTCGTGTGCCTGTGGCGGCCGGCCGACACCACCGCCGTG c.960
A Q A C G R L F V C L W R P A D T T A V p.320
. . . . . . g.1020
GTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGGCCGAGCTGCGGCGTCCGCAG c.1020
V E Y A V R T D A W L P V A E L R R P Q p.340
. . . . . . g.1080
AGCTATGGCCACTGCATGGTGGCCCACCGCGACAGCCTCTATGTGGTGCGCAACGGACCT c.1080
S Y G H C M V A H R D S L Y V V R N G P p.360
. . . . . . g.1140
TCCGACGACTTCCTGCACTGCGCCATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACG c.1140
S D D F L H C A I D C L N L A T G Q W T p.380
. . . . . . g.1200
GCGCTGCCCGGCCAGTTCGTCAACAGCAAGGGAGCGCTCTTCACGGCCGTGGTGCGCGGT c.1200
A L P G Q F V N S K G A L F T A V V R G p.400
. . . . . . g.1260
GACACCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTACGCCATCGAGGGCGGCACC c.1260
D T V Y T V N R M F T L L Y A I E G G T p.420
. . . . . . g.1320
TGGCGGCTGCTCAGGGAGAAAGCCGGCTTCCCGCGGCCCGGCTCCTTGCAGACCTTTCTC c.1320
W R L L R E K A G F P R P G S L Q T F L p.440
. . . . . g.1377
CTAAGGCTGCCTCCTGGCGCTCCTGGGCCTGTGACTTCGACAACGGCAGAACTGTGA c.1377
L R L P P G A P G P V T S T T A E L X p.458
. . . . . . g.1437
cctctgggctggctttaggagggaggagacgccgcgactcctccctgagctatggctgag c.*60
. . . . . . g.1497
tgtgtgaggccggccttagaagtagctggcaacttccctctttctactgagacacccagg c.*120
. . . . . . g.1557
tttggtgccttctggtggtgtggacatgttcaagaagctcagggagcagtgatgatgccc c.*180
. . . . . . g.1617
tcaaattacttgggctctgctgagagctggtgggtcacaatgtcagtgaacagggtaggg c.*240
. . . . . . g.1677
ggagttgggatttgaataatccgggcttatatgtaatgggctagtgattgagcatcgctg c.*300
. . . . . . g.1737
ggagcgacttaaatgatgttaatcaaactgcaagtagtaggcaagaattaggcacctact c.*360
. . . . . . g.1797
gtatgcccaatacagtgttatgcgtaatgagagccgtagttgccacacagggatccagga c.*420
. . . . . . g.1857
agcttaaaggataacccagaaaacaatcttaacagttacaggacaacaaaaaggtttaca c.*480
. . . . . . g.1917
cacaacttgatccacagagttgaaggcaacatgcaaaaaaatttaaaaccgcatacaata c.*540
. . . . . . g.1977
taataaaataaagtgctgaagaaatcagggcaaagggaaaataggaagagaaaaaatata c.*600
. . . . . . g.2037
taactccagaaaagaagagagtgtgcaaactctatggaggagatgagcaggataccatta c.*660
. . . . . . g.2097
gctgctgaaaggggaggcttagaccatggaggctgagagctcagaagagaagcagggttg c.*720
. . . . . . g.2157
gggaaggctggagcagatggggagggtctctgcaagtccagccataccagcagagcagca c.*780
. . . . . . g.2217
gtagttggggcatctagagaggggatgagactgggccagcttgcagcagataatgactga c.*840
. . . . . . g.2277
gctgagcctggagtgagacctgtgggggcgagaggattcttcacgttcctttttggaacc c.*900
. . . . . . g.2337
cttaggggagcacccaggtgtaagcccttgcccaccctgtttttgccatcaccacggggc c.*960
. . . . . . g.2397
agtggactgttaacccacatgacttcaggtcagttgaggtatgagccaaatcctgcctca c.*1020
. . . . . . g.2457
tcttcctcagttgtagcccctcctccacattctacaggtttgttctcttcctgtcctatt c.*1080
. . . . . . g.2517
ctgccctttgcaattccctgggctggaatgcctagtctcctcctctctccctgtcagtgc c.*1140
. . . . . . g.2577
tctaccatcctctgtgcagcattggctcacccagctcttcgttttcctgacctgggctgc c.*1200
. . . . . . g.2637
ctgcattgctcattggacccctggctgtaacatcattgtgtgtgcacaaccacgtgtgtg c.*1260
. . . . . . g.2697
gattgtaagggcagagatcctgttaagtgagctgggggacttccctgtcccagattaaaa c.*1320
. . . . . . g.2757
tgatgatgccttgaaagaacccaggctacagaggccactagttaggaacctagtgctgac c.*1380
. . . . . . g.2817
ctctgttgttggatgaggactctcgttccttcatcaaaatccccagctctggcttctggg c.*1440
. . . . . . g.2877
cagatgcctgtcccagccctttccagcctctccatggccttgggaagacttctctgggtg c.*1500
. . . . . . g.2937
gttctcattggtctccatcccccaggacctgaggcccatggggaatcttggcctcgtcag c.*1560
. . . . . . g.2997
aagtggagaatgcagtgtcagcatgacacctccggggcatggaggctcgcgccagggctg c.*1620
. . . . . . g.3057
cacctagctgcctcttctcctggcctatgtcccaaccctggagaatgctgccctcagaag c.*1680
. . . . . . g.3117
cctgggaccttccagccctggagtagcctagtctgataagtctcaacaataaaccctgac c.*1740
g.3123
ttttgc c.*1746
(downstream sequence)
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