(used for variant description)
(last modified May 25, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_183050.2 in the BCKDHB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering BCKDHB transcript NM_183050.2.
(upstream sequence)
g.5007
gggtgct c.-61
. . . . . . g.5067
ccgccctccccgcaggcggcgtgcggctgcatagcctgagaatcccggtggtgagcgggg c.-1
. . . . . . g.5127
ATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAG c.60
M A V V A A A A G W L L R L R A A G A E p.20
. . . . . . g.5187
GGGCACTGGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCG c.120
G H W R R L P G A G L A R G F L H P A A p.40
. . . . . . g.5247
ACTGTCGAGGATGCGGCCCAGAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCG c.180
T V E D A A Q R R Q V A H F T F Q P D P p.60
. | 02 . . . . . g.25964
GAGCCCCGGGAGTACG | GGCAAACTCAGAAAATGAATCTTTTCCAGTCTGTAACAAGTGCC c.240
E P R E Y G | Q T Q K M N L F Q S V T S A p.80
. . . | 03 . . . g.27560
TTGGATAACTCATTGGCCAAAGATCCTACTGCAG | TAATATTTGGTGAAGATGTTGCCTTT c.300
L D N S L A K D P T A V | I F G E D V A F p.100
. . . . | 04 . . g.66068
GGTGGAGTCTTTAGATGCACTGTTGGCTTGCGAGACAAATATG | GAAAAGATAGAGTTTTT c.360
G G V F R C T V G L R D K Y G | K D R V F p.120
. . . . . . g.66128
AATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGTCACTGGA c.420
N T P L C E Q G I V G F G I G I A V T G p.140
. . . . . | 05. g.67251
GCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGATCAG | ATT c.480
A T A I A E I Q F A D Y I F P A F D Q | I p.160
. . . . . . g.67311
GTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCTC c.540
V N E A A K Y R Y R S G D L F N C G S L p.180
. . . . . . g.67371
ACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTATCATTCTCAGAGTCCT c.600
T I R S P W G C V G H G A L Y H S Q S P p.200
. . . | 06 . . . g.69682
GAAGCATTTTTTGCCCATTGCCCAGGAATCAAG | GTGGTTATACCCAGAAGCCCTTTCCAG c.660
E A F F A H C P G I K | V V I P R S P F Q p.220
. . . . . . g.69742
GCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTTTGAACCT c.720
A K G L L L S C I E D K N P C I F F E P p.240
. . | 07 . . . . g.99345
AAAATACTTTACAGGGCAGCAG | CGGAAGAAGTCCCTATAGAACCATACAACATCCCACTG c.780
K I L Y R A A A | E E V P I E P Y N I P L p.260
. . . . . . g.99405
TCCCAGGCCGAAGTCATACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTCAG c.840
S Q A E V I Q E G S D V T L V A W G T Q p.280
| 08 . . . . . . g.101535
| GTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAA c.900
| V H V I R E V A S M A K E K L G V S C E p.300
. . . . . | 09 . g.171517
GTCATTGATCTGAGGACTATAATACCTTGGGATGTGGACACAATTTGTAAG | TCTGTGATC c.960
V I D L R T I I P W D V D T I C K | S V I p.320
. . . . . . g.171577
AAAACAGGGCGACTGCTAATCAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAA c.1020
K T G R L L I S H E A P L T G G F A S E p.340
. | 10 . . . . g.242079
ATCAGCTCTACAGTTCAG | GAGGAATGTTTCTTGAACCTAGAGGCTCCTATATCAAGAGTA c.1080
I S S T V Q | E E C F L N L E A P I S R V p.360
. . . . . . g.242139
TGTGGTTATGACACACCATTTCCTCACATTTTTGAACCATTCTACATCCCAGACAAATGG c.1140
C G Y D T P F P H I F E P F Y I P D K W p.380
. . . g.242178
AAGTGTTATGATGCCCTTCGAAAAATGATCAACTATTGA c.1179
K C Y D A L R K M I N Y X p.392
. . . . . . g.242238
ccatataggtaggtatgcatcttgagaaagctactatgtgcccctgacattaacgtactg c.*60
. . . . . . g.242298
ttaaccaagacacagcaatcatcagtgttttgatggtaacaaactttgatggtaaagttg c.*120
. . . . . . g.242358
gtaaaaggcaactttcagaagaaaataatgtgctttagaaaaaaaattcaaatttatagt c.*180
. . . . . . g.242418
agtatatttacatttttgttgttgttgttgttctgagatggagtctcactctgtcgccca c.*240
. . . . . . g.242478
ggctagactgcagtggtgcaatctcagctcactgcaacctcccccctacccctgagttca c.*300
. . . . . . g.242538
agcgattctcctgcctcagcctgctgagtagttgggattacaggcgcccaccaccatgcc c.*360
. . . . . . g.242598
cagctaatttttgtgtttttattggaggtggggtgtcactatgttggctcagctgatttc c.*420
. . . . . . g.242658
aaattcctgacctcaagtgatccacctgccttagcctcccaaagtgctgggattacaggc c.*480
. . . . . . g.242718
atgagccactgcacctggctatatttacatttaatagaaacatatctagcatatgtatat c.*540
. . . . . . g.242778
gtgattttttttttttttttgagaccgagtctcactctgtcaccaggctggagtgcagtg c.*600
. . . . . . g.242838
gtgcgatcttggctcatggcaacctctgcctcccaggttcaagcgattgtcctgcctcag c.*660
. . . . . . g.242898
tctcctgagtagctgggactacaggtgtgcaccaacatgcccagctaattttttatattt c.*720
. . . . . . g.242958
ttagtagagacggggtttcaccatgttggccaggatggtctcgatctcttgaccttgtgt c.*780
. . . . . . g.243018
tccacccgccttggcctcccaaagtgctggaattacaggcatgagccaccgcgcctggcc c.*840
. . . . . . g.243078
tgtatatgtgatttctaaaaaatagatgcatgcatatgttaacattgaatagtcaatcac c.*900
. . . . . . g.243138
tagatgaagatgctctctaccatggtttagattgcaagtgtactttataccattgtttca c.*960
. . . . . . g.243198
acttcaacctttatttttgtatatattttttcagctacttaaactgttcatgaataggcg c.*1020
. . . . . . g.243258
tactttctgtatttaaaaatggcccctcaagcaccgttaatttacattccagttatttac c.*1080
. . . . . . g.243318
atgataattcatgacattctgaaacttgcctgtatattatctgaaaaatggatttcttga c.*1140
. . . . . . g.243378
gcaaaagatctgtttattgtatgtaaggaaaaattttacctgaaaacaaacaaacaaacc c.*1200
. . . . . . g.243438
ctaaaactcagcaccactaccatttccagaagcttttttaacaagtgaatattttttaca c.*1260
. . . . . . g.243498
taatggataataaatggtatttattcatcatgattttctaagtaatgcttatcagcccct c.*1320
. . . . . . g.243558
tcagtggtgttattctaacaaaatgaatacattacaaattattaagttagcttttcagag c.*1380
. . . . . . g.243618
ttttaatatagaagttactagcactgacacactgattttgaaatgtttcaaaatgagtag c.*1440
. . . . . . g.243678
atatgattagatcctttaccttttaatatctagtttttccaaaaatgatagtaatatctt c.*1500
. . . . . . g.243738
ttgaagaactatgctttttcaaaagcaaaatcaactctgtataatagcacattctctact c.*1560
. . . . . . g.243798
ttttaaagatcagaaatgctagaattcttgacttttgtgtatgggtagtaaatctagctc c.*1620
. . . . . . g.243858
actgaaaatcagagtgaaacgcctttacatttgtgcggatagagaagttaactctccctc c.*1680
. . . . . . g.243918
atatgtcactgtgctaccataatccctacattttctgtctgttctagtctaagaatattg c.*1740
. . . . . . g.243978
ttatagatggaagttaggaccattagcccacagatgcatgtattctctcagacataccgg c.*1800
. . . . . . g.244038
tgtagatgctatatttctgatgtcttcttaatgtctgtgaaagcaactggcatctacaat c.*1860
. . . . . . g.244098
aaatcacacttagagctggttagaggactccttcacttttgttgtccatgtggttccctt c.*1920
. . . . . . g.244158
ccgtggaccagccgtaataaagagccaaggtagtgatggtggccacgtgcctcgttgcta c.*1980
. . . . . . g.244218
tttttaaagtaatattcagatgtggttttaaatttagattatgtattccttttgaaacat c.*2040
. . . . . . g.244278
aagaaaaacatttaaacctatgctgaaaatacgataaaagaaaaacaactccaatatgct c.*2100
. . . . . . g.244338
aaaagttaaatatggtatttaagaaaatagtcatgtatgcaattgagaaagtctataatt c.*2160
. . . . . . g.244398
tattttacagaaaagctggaagattatgactagatatggaaatattttttctgaattttt c.*2220
. . . . . . g.244458
ttttatatttcctccgacttacctctttttgaaaagagagtttttattaagtgaaccatc c.*2280
. . . . . . g.244518
acgatattggctgaaaagttctacattctattattgtattgtaacacacatgtattgatg c.*2340
. . . . . . g.244578
attttcattaagagtttcagattaactttgaaaaatattccacatggtaatcttataaat c.*2400
. . . . . . g.244638
tctgtttaattacatctgtaaatattatgtgtgtgatagtattcaataaagtaaaatcaa c.*2460
g.244644
attgtc c.*2466
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29b
©2004-2024 Leiden University Medical Center