(used for variant description)
(last modified December 21, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_005881.2 in the BCKDK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033011.1, covering BCKDK transcript NM_005881.2.
(upstream sequence)
. g.5016
aaactacaactcccag c.-301
. . . . . . g.5076
gacccagcgggcgctgccgcccacgcgacgtcacggcggcggagggcgcaggcggctggg c.-241
. . . . . . g.5136
cgcctggcgagtggactgttcgagcccttccgctgggacccgggccctggctccggcccc c.-181
. | 02 . . . . . g.5763
gcg | atgggagctgctctccgcgggctgagcctgtcagcatcctcgacgcaccctggtccc c.-121
. . . . . . g.5823
tgaagtcggagaagagcccctacccacccacacccccttgccccattttgggtcgcctgg c.-61
. . . . . . g.5883
gtcctcagtcctagcggatcctcagtcctagcggccaccgggtctgaaaggagcaagacg c.-1
. . . . . . g.5943
ATGATCCTGGCGTCGGTGCTGAGGAGCGGTCCCGGGGGCGGGCTTCCGCTCCGGCCCCTC c.60
M I L A S V L R S G P G G G L P L R P L p.20
. . . . . . g.6003
CTGGGACCCGCACTCGCGCTCCGGGCCCGCTCGACGTCGGCCACCGACACACACCACGTG c.120
L G P A L A L R A R S T S A T D T H H V p.40
. . . . . . g.6063
GAGATGGCTCGGGAGCGCTCCAAGACCGTCACCTCCTTTTACAACCAGTCGGCCATCGAC c.180
E M A R E R S K T V T S F Y N Q S A I D p.60
. | 03 . . . . . g.6215
GCGGCAGCGGAGAAG | CCCTCAGTCCGCCTAACGCCCACCATGATGCTCTACGCTGGCCGC c.240
A A A E K | P S V R L T P T M M L Y A G R p.80
. . | 04 . . . . g.6368
TCTCAGGACGGCAGCCACCTTCTG | AAAAGTGCTCGGTACCTGCAGCAAGAACTTCCAGTG c.300
S Q D G S H L L | K S A R Y L Q Q E L P V p.100
. . . . . . g.6428
AGGATTGCTCACCGCATCAAGGGCTTCCGCTGCCTTCCTTTCATCATTGGCTGCAACCCC c.360
R I A H R I K G F R C L P F I I G C N P p.120
. | 05 . . . . . g.6781
ACCATACTGCACGTG | CATGAGCTATATATCCGTGCCTTCCAGAAGCTGACAGACTTCCCT c.420
T I L H V | H E L Y I R A F Q K L T D F P p.140
| 06 . . . . . . g.6921
CCG | ATCAAGGACCAGGCGGACGAGGCCCAGTACTGCCAGCTGGTGCGACAGCTGCTGGAT c.480
P | I K D Q A D E A Q Y C Q L V R Q L L D p.160
. . . . . . g.6981
GACCACAAGGATGTGGTGACCCTCTTGGCAGAGGGCCTACGTGAGAGCCGGAAGCACATA c.540
D H K D V V T L L A E G L R E S R K H I p.180
| 07 . . . . . . g.7117
GAG | GATGAAAAGCTCGTCCGCTACTTCTTGGACAAGACGCTGACTTCGAGGCTTGGAATC c.600
E | D E K L V R Y F L D K T L T S R L G I p.200
. . . . | 08 . . g.7365
CGCATGTTGGCCACGCATCACCTGGCGCTGCATGAGGACAAG | CCTGACTTTGTCGGCATC c.660
R M L A T H H L A L H E D K | P D F V G I p.220
. . . . . | 09 . g.7754
ATCTGTACTCGTCTCTCACCAAAGAAGATTATTGAGAAGTGGGTGGACTTTGCCAG | ACGC c.720
I C T R L S P K K I I E K W V D F A R | R p.240
. . . . . . g.7814
CTGTGTGAGCACAAGTATGGCAATGCGCCCCGTGTCCGCATCAATGGCCATGTGGCTGCC c.780
L C E H K Y G N A P R V R I N G H V A A p.260
. . . . . . g.7874
CGGTTCCCCTTCATCCCTATGCCACTGGACTACATCCTGCCGGAGCTGCTCAAGAATGCC c.840
R F P F I P M P L D Y I L P E L L K N A p.280
| 10 . . . . . . g.8014
ATGAG | AGCCACAATGGAGAGTCACCTAGACACTCCCTACAATGTCCCAGATGTGGTCATC c.900
M R | A T M E S H L D T P Y N V P D V V I p.300
. . . | 11 . . . g.8553
ACCATCGCCAACAATGATGTCGATCTGATCATCAG | GATCTCAGACCGTGGTGGAGGAATC c.960
T I A N N D V D L I I R | I S D R G G G I p.320
. . . . . . g.8613
GCTCACAAAGATCTGGACCGGGTCATGGACTACCACTTCACTACTGCTGAGGCCAGCACA c.1020
A H K D L D R V M D Y H F T T A E A S T p.340
. . . . . . g.8673
CAGGACCCCCGGATCAGCCCCCTCTTTGGCCATCTGGACATGCATAGTGGCGCCCAGTCA c.1080
Q D P R I S P L F G H L D M H S G A Q S p.360
. | 12 . . . . . g.8826
GGACCCATGCACGG | CTTTGGCTTCGGGTTGCCCACGTCACGGGCCTACGCGGAGTACCTC c.1140
G P M H G | F G F G L P T S R A Y A E Y L p.380
. . . . . . g.8886
GGTGGGTCTCTGCAGCTGCAGTCCCTGCAGGGCATTGGCACGGACGTCTACCTGCGGCTC c.1200
G G S L Q L Q S L Q G I G T D V Y L R L p.400
. . . g.8925
CGCCACATCGATGGCCGGGAGGAAAGCTTCCGGATCTGA c.1239
R H I D G R E E S F R I X p.412
. . . . . . g.8985
ccccacagcctttggcctgctcacccgaccagcctgggccgcattccctgcaggacctcc c.*60
. . . . . . g.9045
cgggtcaggcagggcggccccctgctccacacactgctgcatcttgggtctcagggaccc c.*120
. . . . . . g.9105
agacagatggacttacatggagctgggcactgccctgcctcaacagggtccattgcctcc c.*180
. . . . . . g.9165
tcgcctccagaacttggagcagggaagtgggcaccctgaggcctccagcaccagttccgt c.*240
. . . . . . g.9225
cattctcgttcctggggaacccccactctgacctgttattaaagttcacattttgaatgc c.*300
. . . . . . g.9285
cctctcgggccccgtgtgtggggagggcaggtgaacttttgtttctgcccccattcaggt c.*360
. . . . . . g.9345
tcactgagcccttgggttgaactggttcgtgtcccagtctcttacctgccctgagagcct c.*420
. . . . . . g.9405
ggcaggccaggagtagaatgggtcccaagtctgttgcatgtttgatttggtgggagtggg c.*480
. . . . g.9451
atgactgcagcaccttatacaaagagctttcattcatcttgttgaa c.*526
(downstream sequence)
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