(used for mutation description)
(last modified December 20, 2012)
This file was created to facilitate the description of sequence variants in the KBTBD5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033035.1, covering KBTBD5 transcript NM_152393.3.
(upstream sequence)
. . . . g.5040
cctcgaagacagctgctcagtctaagcaaaccccagcagg c.-61
. . . . . . g.5100
aaagcaggggtacagagaggagcccccttggcaccgccaccgcaccctaggccacccacc c.-1
. . . . . . g.5160
ATGGCGCTGGGCTTGGAGCAGGCGGAGGAGCAGCGGTTGTACCAGCAGACGCTCCTGCAA c.60
M A L G L E Q A E E Q R L Y Q Q T L L Q p.20
. . . . . . g.5220
GACGGGCTCAAAGACATGCTGGACCATGGCAAGTTCCTCGACTGTGTGGTGCGGGCGGGC c.120
D G L K D M L D H G K F L D C V V R A G p.40
. . . . . . g.5280
GAGCGCGAGTTCCCGTGCCATCGCCTGGTGCTGGCCGCCTGCAGCCCCTACTTCCGGGCG c.180
E R E F P C H R L V L A A C S P Y F R A p.60
. . . . . . g.5340
CGCTTTCTAGCCGAGCCGGAGCGCGCGGGCGAGCTGCACCTGGAGGAGGTGTCCCCGGAC c.240
R F L A E P E R A G E L H L E E V S P D p.80
. . . . . . g.5400
GTGGTGGCCCAGGTGCTGCACTACCTGTACACATCAGAGATCGCGCTGGATGAGGCGAGC c.300
V V A Q V L H Y L Y T S E I A L D E A S p.100
. . . . . . g.5460
GTGCAGGATTTGTTCGCCGCGGCACACCGCTTCCAGATCCCTTCCATCTTCACCATCTGC c.360
V Q D L F A A A H R F Q I P S I F T I C p.120
. . . . . . g.5520
GTGTCCTTCCTGCAGAAGCGCCTGTGCCTCTCCAACTGCTTGGCCGTCTTCCGTCTCGGC c.420
V S F L Q K R L C L S N C L A V F R L G p.140
. . . . . . g.5580
CTCCTGCTCGACTGCGCGCGTCTCGCCGTGGCTGCCCGCGACTTCATCTGCGCTCACTTC c.480
L L L D C A R L A V A A R D F I C A H F p.160
. . . . . . g.5640
ACGCTGGTGGCGCGCGACGCTGACTTCCTCGGACTCTCGGCCGACGAGCTCATCGCCATC c.540
T L V A R D A D F L G L S A D E L I A I p.180
. . . . . . g.5700
ATCTCCAGCGACGGCCTTAACGTGGAGAAGGAGGAGGCAGTGTTCGAGGCGGTGATGCGG c.600
I S S D G L N V E K E E A V F E A V M R p.200
. . . . . . g.5760
TGGGCGGGTAGCGGCGACGCCGAGGCGCAGGCTGAGCGCCAGCGCGCGCTGCCCACCGTC c.660
W A G S G D A E A Q A E R Q R A L P T V p.220
. . . . . . g.5820
TTCGAGAGCGTGCGCTGCCGCTTGCTGCCGCGCGCCTTTCTGGAAAGCCGCGTGGAGCGC c.720
F E S V R C R L L P R A F L E S R V E R p.240
. . . . . . g.5880
CACCCTCTCGTGCGTGCCCAGCCCGAGTTGCTGCGCAAGGTGCAGATGGTGAAGGATGCA c.780
H P L V R A Q P E L L R K V Q M V K D A p.260
. . . . . . g.5940
CACGAGGGCCGCATCACCACGCTGCGGAAGAAAAAGAAGGGGAAGGATGGAGCCGGGGCC c.840
H E G R I T T L R K K K K G K D G A G A p.280
. . . . . . g.6000
AAGGAGGCTGATAAGGGCACAAGCAAAGCCAAAGCAGAGGAGGATGAGGAGGCCGAACGT c.900
K E A D K G T S K A K A E E D E E A E R p.300
. . . . . . g.6060
ATCCTTCCTGGGATCCTCAATGACACCCTGCGCTTCGGCATGTTCCTGCAGGATCTCATC c.960
I L P G I L N D T L R F G M F L Q D L I p.320
. . . . . . g.6120
TTCATGATCAGTGAGGAGGGCGCTGTGGCCTACGATCCAGCAGCCAACGAGTGCTACTGT c.1020
F M I S E E G A V A Y D P A A N E C Y C p.340
. . . . . . g.6180
GCTTCCCTCTCCAACCAGGTCCCCAAGAACCACGTCAGCCTGGTTACCAAGGAGAACCAG c.1080
A S L S N Q V P K N H V S L V T K E N Q p.360
. . . . . . g.6240
GTCTTCGTGGCTGGAGGCCTCTTCTACAACGAAGACAACAAAGAGGACCCCATGAGCGCA c.1140
V F V A G G L F Y N E D N K E D P M S A p.380
. | 02 . . . . . g.7671
TACTTCCTGCAG | TTTGACCATCTGGACTCAGAGTGGCTGGGGATGCCACCGCTGCCCTCG c.1200
Y F L Q | F D H L D S E W L G M P P L P S p.400
. . . . . . g.7731
CCCCGCTGCCTCTTTGGCCTGGGAGAAGCTCTCAACTCCATCTACGTGGTCGGTGGCAGA c.1260
P R C L F G L G E A L N S I Y V V G G R p.420
. . . . . | 03 . g.8098
GAGATCAAGGACGGCGAGCGCTGCCTGGACTCGGTCATGTGCTACGACAGGCT | GTCATTC c.1320
E I K D G E R C L D S V M C Y D R L | S F p.440
. . . . . . g.8158
AAATGGGGTGAATCGGACCCGCTGCCTTACGTGGTGTATGGCCACACAGTGCTCTCCCAC c.1380
K W G E S D P L P Y V V Y G H T V L S H p.460
. . . . | 04 . . g.8369
ATGGACCTTGTCTACGTAATTGGCGGCAAAGGCAGTGACAG | GAAGTGCCTGAACAAGATG c.1440
M D L V Y V I G G K G S D R | K C L N K M p.480
. . . . . . g.8429
TGCGTCTATGACCCCAAGAAGTTTGAGTGGAAGGAGCTGGCACCCATGCAGACCGCCCGC c.1500
C V Y D P K K F E W K E L A P M Q T A R p.500
. . . . . . g.8489
TCACTCTTTGGGGCCACTGTCCATGATGGCCGCATTATCGTGGCAGCTGGGGTCACCGAC c.1560
S L F G A T V H D G R I I V A A G V T D p.520
. . . . | 05. . g.10353
ACAGGGCTGACCAGTTCTGCCGAAGTGTACAGCATCACAGACAACAA | GTGGGCACCCTTC c.1620
T G L T S S A E V Y S I T D N K | W A P F p.540
. . . . . . g.10413
GAGGCCTTCCCACAGGAGCGTAGCTCACTCAGCCTGGTCAGCCTGGTGGGTACCCTCTAT c.1680
E A F P Q E R S S L S L V S L V G T L Y p.560
. . . . . . g.10473
GCCATTGGTGGCTTTGCCACACTGGAGACGGAGTCTGGAGAGCTGGTTCCCACAGAGCTC c.1740
A I G G F A T L E T E S G E L V P T E L p.580
. | 06 . . . . . g.11409
AATGACATCTGGAG | GTATAACGAGGAGGAGAAGAAATGGGAGGGTGTCCTGCGGGAGATC c.1800
N D I W R | Y N E E E K K W E G V L R E I p.600
. . . . . . g.11469
GCCTATGCAGCAGGTGCCACCTTCCTACCAGTGCGGCTCAATGTGCTGTGCCTGACTAAG c.1860
A Y A A G A T F L P V R L N V L C L T K p.620
g.11475
ATGTGA c.1866
M X p.621
. . . . . . g.11535
ccagctcaggcagactgaactaagcacccctcccatcctgcgaccctcactggcctggcc c.*60
. . . . . . g.11595
ttgtgggggctccagaaaagaggctaggagaggccagagtctacctggatccagttatgg c.*120
. . . . . . g.11655
tgcctcaggggctgcgtcagccaaggaaagggaagtgctgcttagtcctggacttttggg c.*180
. . . . . . g.11715
caagggtgagaaactagaggcttctccagtgttgccatatccccctaggttgtcttgatc c.*240
. . . . . . g.11775
catgaaccagaaccacagggcggtatcccaggccgtgtgctggccctgccccagcctagc c.*300
. . . . . . g.11835
tgagtgtgctggcaaagttccccacaggactcagccttctcgtctgtccgatgggagcat c.*360
. . . . . . g.11895
ccccatcaagtgcagtgtacagtgcagatatgtctccttctttaggaagaataaagtgcc c.*420
. . . g.11928
ttctgagcaagcagctcagggtctgcatcagtg c.*453
(downstream sequence)
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