dihydrolipoamide branched chain transacylase E2 (DBT) - coding DNA reference sequence

(used for variant description)

(last modified August 11, 2025)


This file was created to facilitate the description of sequence variants on transcript NM_001918.3 in the DBT gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering DBT transcript NM_001918.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5033
                            agtttgcggcactgttgtcatttccggggtaag       c.-1

          .         .         .         .         .  | 02      .    g.13978
 ATGGCTGCAGTCCGTATGCTGAGAACCTGGAGCAGGAATGCGGGGAAGCTG | ATTTGTGTT    c.60
 M  A  A  V  R  M  L  R  T  W  S  R  N  A  G  K  L   | I  C  V      p.20

          .         .         .         .         .         .       g.14038
 CGCTATTTTCAAACATGTGGTAATGTTCATGTTTTGAAGCCAAATTATGTGTGTTTCTTT       c.120
 R  Y  F  Q  T  C  G  N  V  H  V  L  K  P  N  Y  V  C  F  F         p.40

          .         .         .         .         .      | 03  .    g.19347
 GGTTATCCTTCATTCAAGTATAGTCATCCACATCACTTCCTGAAAACAACTGCTG | CTCTC    c.180
 G  Y  P  S  F  K  Y  S  H  P  H  H  F  L  K  T  T  A  A |   L      p.60

          .         .         .         .         .         .       g.19407
 CGTGGACAGGTTGTTCAGTTCAAGCTCTCAGACATTGGAGAAGGGATTAGAGAAGTAACT       c.240
 R  G  Q  V  V  Q  F  K  L  S  D  I  G  E  G  I  R  E  V  T         p.80

          .  | 04      .         .         .         .         .    g.23988
 GTTAAAGAATG | GTATGTAAAAGAAGGAGATACAGTGTCTCAGTTTGATAGCATCTGTGAA    c.300
 V  K  E  W  |  Y  V  K  E  G  D  T  V  S  Q  F  D  S  I  C  E      p.100

          .         .         .         .         .         .       g.24048
 GTTCAAAGTGATAAAGCTTCTGTTACCATCACTAGTCGTTATGATGGAGTCATTAAAAAA       c.360
 V  Q  S  D  K  A  S  V  T  I  T  S  R  Y  D  G  V  I  K  K         p.120

          .         .         .         .         .         .       g.24108
 CTCTATTATAATCTAGACGATATTGCCTATGTGGGGAAGCCATTAGTAGACATAGAAACG       c.420
 L  Y  Y  N  L  D  D  I  A  Y  V  G  K  P  L  V  D  I  E  T         p.140

          .    | 05    .         .         .         .         .    g.36153
 GAAGCTTTAAAAG | ATTCAGAAGAAGATGTTGTTGAAACTCCTGCAGTGTCTCATGATGAA    c.480
 E  A  L  K  D |   S  E  E  D  V  V  E  T  P  A  V  S  H  D  E      p.160

          .         .         .         .         .         .       g.36213
 CATACACACCAAGAGATAAAGGGCCGAAAAACACTGGCAACTCCTGCAGTTCGCCGTCTG       c.540
 H  T  H  Q  E  I  K  G  R  K  T  L  A  T  P  A  V  R  R  L         p.180

          .      | 06  .         .         .         .         .    g.38699
 GCAATGGAAAACAAT | ATTAAGCTGAGTGAAGTTGTTGGCTCAGGAAAAGATGGCAGAATA    c.600
 A  M  E  N  N   | I  K  L  S  E  V  V  G  S  G  K  D  G  R  I      p.200

          .         .         .         .         .         .       g.38759
 CTTAAAGAAGATATCCTCAACTATTTGGAAAAGCAGACAGGAGCTATATTGCCTCCTTCA       c.660
 L  K  E  D  I  L  N  Y  L  E  K  Q  T  G  A  I  L  P  P  S         p.220

          .         .         .         .         .         .       g.38819
 CCCAAAGTTGAAATTATGCCACCTCCACCAAAGCCAAAAGACATGACTGTTCCTATACTA       c.720
 P  K  V  E  I  M  P  P  P  P  K  P  K  D  M  T  V  P  I  L         p.240

          .         .         .         .         .   | 07     .    g.39878
 GTATCAAAACCTCCGGTATTCACAGGCAAAGACAAAACAGAACCCATAAAAG | GCTTTCAA    c.780
 V  S  K  P  P  V  F  T  G  K  D  K  T  E  P  I  K  G |   F  Q      p.260

          .         .         .         .         .         .       g.39938
 AAAGCAATGGTCAAGACTATGTCTGCAGCCCTGAAGATACCTCATTTTGGTTATTGTGAT       c.840
 K  A  M  V  K  T  M  S  A  A  L  K  I  P  H  F  G  Y  C  D         p.280

          .         .         .         .         .         .       g.39998
 GAGATTGACCTTACTGAACTGGTTAAGCTCCGAGAAGAATTAAAACCCATTGCATTTGCT       c.900
 E  I  D  L  T  E  L  V  K  L  R  E  E  L  K  P  I  A  F  A         p.300

          .         .         .          | 08        .         .    g.44103
 CGTGGAATTAAACTCTCCTTTATGCCTTTCTTCTTAAAG | GCTGCTTCCTTGGGATTACTA    c.960
 R  G  I  K  L  S  F  M  P  F  F  L  K   | A  A  S  L  G  L  L      p.320

          .         .         .         .         .        | 09.    g.48220
 CAGTTTCCTATCCTTAACGCTTCTGTGGATGAAAACTGCCAGAATATAACATATAAG | GCT    c.1020
 Q  F  P  I  L  N  A  S  V  D  E  N  C  Q  N  I  T  Y  K   | A      p.340

          .         .         .         .         .         .       g.48280
 TCTCATAACATTGGGATAGCAATGGATACTGAGCAGGGTTTGATTGTCCCTAATGTGAAA       c.1080
 S  H  N  I  G  I  A  M  D  T  E  Q  G  L  I  V  P  N  V  K         p.360

          .         .         .         .         .         .       g.48340
 AATGTTCAGATCTGCTCTATATTTGACATCGCCACTGAACTGAACCGCCTCCAGAAATTG       c.1140
 N  V  Q  I  C  S  I  F  D  I  A  T  E  L  N  R  L  Q  K  L         p.380

          .         .         .         .         .         .       g.48400
 GGCTCTGTGAGTCAGCTCAGCACCACTGATCTTACAGGAGGAACATTTACTCTTTCCAAC       c.1200
 G  S  V  S  Q  L  S  T  T  D  L  T  G  G  T  F  T  L  S  N         p.400

           | 10        .         .         .         .         .    g.48603
 ATTGGATCA | ATTGGTGGTACCTTTGCCAAACCAGTGATAATGCCACCTGAAGTAGCCATT    c.1260
 I  G  S   | I  G  G  T  F  A  K  P  V  I  M  P  P  E  V  A  I      p.420

          .         .  | 11      .         .         .         .    g.58470
 GGGGCCCTTGGATCAATTAAG | GCCATTCCCCGATTTAACCAGAAAGGAGAAGTATATAAG    c.1320
 G  A  L  G  S  I  K   | A  I  P  R  F  N  Q  K  G  E  V  Y  K      p.440

          .         .         .         .         .         .       g.58530
 GCACAGATAATGAATGTGAGCTGGTCAGCTGATCACAGAGTTATTGATGGTGCTACAATG       c.1380
 A  Q  I  M  N  V  S  W  S  A  D  H  R  V  I  D  G  A  T  M         p.460

          .         .         .         .         .         .       g.58590
 TCACGCTTCTCCAATTTGTGGAAATCCTATTTAGAAAACCCAGCTTTTATGCTACTAGAT       c.1440
 S  R  F  S  N  L  W  K  S  Y  L  E  N  P  A  F  M  L  L  D         p.480

                                                                    g.58599
 CTGAAATGA                                                          c.1449
 L  K  X                                                            p.482

          .         .         .         .         .         .       g.58659
 agactgataagacattcttgaactttttgagcttccaaagagtatgtaaaccctagctgt       c.*60

          .         .         .         .         .         .       g.58719
 gccagcacatgttcatctttacaatttatattgtaaatgatttgtatcgtatgattaagg       c.*120

          .         .         .         .         .         .       g.58779
 atctaaggcacaatatttgtcactgttctattagactttttactgaaaatgaataatggt       c.*180

          .         .         .         .         .         .       g.58839
 gtaatggttctcctggggctgtcacattttataggtcagagtgtgacttcttaatatggt       c.*240

          .         .         .         .         .         .       g.58899
 gctgatgtttttgtgtcaatggcttgaaactggcaagattaacaaaattaggccgggcat       c.*300

          .         .         .         .         .         .       g.58959
 ggtggctcacgcctgtaatcccagcactttgggaggcccaggtgggcggatcacctgagg       c.*360

          .         .         .         .         .         .       g.59019
 ttagaagtttgagaccagcctggccaacatggtgaaacctggcctctactaaaaatacaa       c.*420

          .         .         .         .         .         .       g.59079
 aaattagccgggtgtggtggtgggtacctataatcccagctacttgggaggctgaggcag       c.*480

          .         .         .         .         .         .       g.59139
 gagaatcgcttgaacctgggaggtggaggttgcagtgagctgagatcgtgctattgcact       c.*540

          .         .         .         .         .         .       g.59199
 ccagcctgggcgacagagcaagacgccatctcaaaaacaaaaaaacaaaattcatgttac       c.*600

          .         .         .         .         .         .       g.59259
 taaaagacaggtagccatatacagacagtatatgccctattttttttaactgactcttaa       c.*660

          .         .         .         .         .         .       g.59319
 tgaaactttaattttacttaattaagaaatggaatttatatacaaaaatattttccattt       c.*720

          .         .         .         .         .         .       g.59379
 ccgttattatgctaattgttgtatgaaataagtgcaattatacttctcttttgagatatc       c.*780

          .         .         .         .         .         .       g.59439
 caagagtatattcttgctctgtatagagaatatcatctgatagtgtcttatttatattaa       c.*840

          .         .         .         .         .         .       g.59499
 ttaatgtctttgaaaagggaaaagtataaactggccttaaaattgtccaattatagtttt       c.*900

          .         .         .         .         .         .       g.59559
 ataaccagtctattaaaggtgtttgtttaaaatggatatagttttagatttgtggtaatg       c.*960

          .         .         .         .         .         .       g.59619
 ctttggtattttcttggggaagaccttcacctttgcaaacttccctcatgtaaggaaggt       c.*1020

          .         .         .         .         .         .       g.59679
 actttaaatgtagcagccactgacatttctttttttaaaaaaaatttgagaagtctactt       c.*1080

          .         .         .         .         .         .       g.59739
 ccttttaacttttttggtcttcagctaaaaaataggataagaaattaaggtctattccat       c.*1140

          .         .         .         .         .         .       g.59799
 tctccatatcctgggtaagaatgtaaataagaggagaaggaagagtctaatagtaattat       c.*1200

          .         .         .         .         .         .       g.59859
 ggatataaaaaataagaaattttgtatagaaatgaaggtttcataatgatcattttgtta       c.*1260

          .         .         .         .         .         .       g.59919
 aaggtctactttaatcagaaatagcaacgagatgaatgtatccaacatttcaatttgcat       c.*1320

          .         .         .         .         .         .       g.59979
 tcggaaatccatgttgtttctaatattgtccagttgaaaactgtatgccaaaattagttg       c.*1380

          .         .         .         .         .         .       g.60039
 tttaagtgaagttttgtgacagaaaaaaggttgttttaatatctacttggtttttctcaa       c.*1440

          .         .         .         .         .         .       g.60099
 aatggaaataattttaaaatcaggaaagaataaatcagccaggtgtgatgacttgtaact       c.*1500

          .         .         .         .         .         .       g.60159
 gtaatcccagttataggggaggctgaagcaggaggatcacttgaggccaggagtttgaga       c.*1560

          .         .         .         .         .         .       g.60219
 ccagcctgggcaacatagtgagatcccatctcaaaaaacattatttttaaaattagcctg       c.*1620

          .         .         .         .         .         .       g.60279
 gtggctcacgcctgtaatcccagcactttgggaggccgaggtggccagatcacctgaggt       c.*1680

          .         .         .         .         .         .       g.60339
 caggagttcgagaccaccctggccaacatggtgaaaccccatctctacagttttgtaaaa       c.*1740

          .         .         .         .         .         .       g.60399
 atacaaaaaattacctgggcctggtggcacacgcctgtagtcccagctacttgggaggct       c.*1800

          .         .         .         .         .         .       g.60459
 gaggcaggagaattgcttgagcccaagaggtggaggttacagtgagcagagatcacacca       c.*1860

          .         .         .         .         .         .       g.60519
 ctgcactccagcctgggtggcagagcaacactttgtctcagaaaaaaaaaaaaaaaccaa       c.*1920

          .         .         .         .         .         .       g.60579
 aaagccaagtgtggtggtgtgcacctatagtcccagctactcaggaagctgagacaagag       c.*1980

          .         .         .         .         .         .       g.60639
 gatcaattgagcccaggagttcaaagctgtagtgagctgtcattgtgccactatcctcca       c.*2040

          .         .         .         .         .         .       g.60699
 gtatgggtgacagagtgagacctggtctctaaaaaataaaataaaataaaaaaaacaggt       c.*2100

          .         .         .         .         .         .       g.60759
 caaataaatgctgttgttgtaaaatttcagataatacaaagagttaaccaataaaagaaa       c.*2160

          .         .         .         .         .         .       g.60819
 aagtcattcataatcttaccactattaacattttgatgtatctatctgtatgtatggcta       c.*2220

          .         .         .         .         .         .       g.60879
 ttcttttttgttaaaacatgatcatagcatatctactattttattatttgatttttaaaa       c.*2280

          .         .         .         .         .         .       g.60939
 tttaacattatattatgggtaaccttacatgtcaataaacaattccacattgtcatgctt       c.*2340

          .         .         .         .         .         .       g.60999
 taaatggctgcataggctgggtgtggtggctcacgcctgtaatcctaccactttgggagg       c.*2400

          .         .         .         .         .         .       g.61059
 ccaaggcaggtagatcacaaggtcaggagttcgagaccagcctggccaatatggtgaaac       c.*2460

          .         .         .         .         .         .       g.61119
 ctcatctctattgaaaatacaaaaatcagccaggcacggtggcaggcgcctgtagtccac       c.*2520

          .         .         .         .         .         .       g.61179
 ctactcgggaggctgaggcaggagaactgcttgaacccagcggcagaggttgcagtgagc       c.*2580

          .         .         .         .         .         .       g.61239
 caagattgagccactgcactccagcctggtgatagagcgagactctgtctctaaataaat       c.*2640

          .         .         .         .         .         .       g.61299
 aaataaataaataaatgtctgcatagtattccattgtatgcatttattatacattcaaac       c.*2700

          .         .         .         .         .         .       g.61359
 attaaacatctaccataccaatcatggttctaagcatacagtagccaccttcatgcttcc       c.*2760

          .         .         .         .         .         .       g.61419
 ttgattgggcttacagtctagtaaggagacagatattaaataactgcataaaacactgtt       c.*2820

          .         .         .         .         .         .       g.61479
 cttggtaggtaataacccagatgctatgagccatccagtaaaggttaccgatcttatctg       c.*2880

          .         .         .         .         .         .       g.61539
 gaaggatcagaagatggatgtcccataatttaaccaattatctattgataggcatttatt       c.*2940

          .         .         .         .         .         .       g.61599
 gagttttaaatgaataatgacatgatcaataaaaatgtcctcctcacttaaagaatagaa       c.*3000

          .         .         .         .         .         .       g.61659
 aaaccaggagaagggagttctgaaataagtaagtatgtaggtccagcatcaatggctcaa       c.*3060

          .         .         .         .         .         .       g.61719
 gatactctattcccaaataacccttaagttatctggttctattccaacccttgggtatta       c.*3120

          .         .         .         .         .         .       g.61779
 ctatcttctctttggtctcatgcattgagaattcagcaaaggatttgttccctacagtgt       c.*3180

          .         .         .         .         .         .       g.61839
 gcacggcccttaggatagcaggattccctgaagagggccaaaggggcaggagcgcagcct       c.*3240

          .         .         .         .         .         .       g.61899
 tagtggcagtgctggtccatgaggctctacaaagcaagggatgggtgtttgggaggagga       c.*3300

          .         .         .         .         .         .       g.61959
 aaaggctcttgctgtactcctagaggttggaattaaagtggaaaagccagaaaattcaag       c.*3360

          .         .         .         .         .         .       g.62019
 tcctttactaacatgtctggagattagaaggtatatgtacatgggggagaagccaaaatt       c.*3420

          .         .         .         .         .         .       g.62079
 attgctgcgagtggtcagcaagaaaatcaaggctcttttcattattttgagcattcctct       c.*3480

          .         .         .         .         .         .       g.62139
 gatatttgaaaaggaagtacaacaggaaaggaagtctgaggatggaagctaaaattggta       c.*3540

          .         .         .         .         .         .       g.62199
 tgaatttatattttagagatcaaaatgtaccttatgttgaaacctatgtaagaagtgatt       c.*3600

          .         .         .         .         .         .       g.62259
 atgtagaaagagtgaaagtgatagctcttagtctggaaagcccactggcttgtttgggca       c.*3660

          .         .         .         .         .         .       g.62319
 tttctcatggcttcccactcaaagtggatccccaaaatcacttgatggatttccttgctg       c.*3720

          .         .         .         .         .         .       g.62379
 atttctaagtaaactatggtttaagaaagaaatgacagggctcagcactgccctacagta       c.*3780

          .         .         .         .         .         .       g.62439
 ccaagaatacaaatgtttccatgaagtcttcaaaggcatttgtaaaattcaggctgtaag       c.*3840

          .         .         .         .         .         .       g.62499
 tgattagttagttcattctgcacttatttattaactgtatattcagttccaggctctagg       c.*3900

          .         .         .         .         .         .       g.62559
 gtagagattatggataaaggtgaattagatagatgaagtttttgccctcacagcaaaagc       c.*3960

          .         .         .         .         .         .       g.62619
 tttagccaataattaaagctatcactggaagtgggtctgtgccaataacctagagaagag       c.*4020

          .         .         .         .         .         .       g.62679
 cagtgcttttagagttgagctatattcccaatcagttcttaatggtggttttaccccctt       c.*4080

          .         .         .         .         .         .       g.62739
 ccctctacactgtcttttcttgagattggatcatgtgtgtgaacccacatcatttccagt       c.*4140

          .         .         .         .         .         .       g.62799
 caaaatcaccaagagaggccggacacagtggctcatgcctataatcccagcactttggga       c.*4200

          .         .         .         .         .         .       g.62859
 ggcctaaatgggtgggcctcttgagtccagagtttgagaccagcctgggcgaccccagct       c.*4260

          .         .         .         .         .         .       g.62919
 ctaccaaaaaaaccaaaaaacaaaaaataccaaaaaaaaaaaaaattaggccgatgaagt       c.*4320

          .         .         .         .         .         .       g.62979
 gacatgcacctgtgtgccacctactcaggaggctgaggtggcaggatcacttgcatctgg       c.*4380

          .         .         .         .         .         .       g.63039
 gggcaaaggctgccgtgagctgagattgtgccattgcgctccagcctgggcgacagagca       c.*4440

          .         .         .         .         .         .       g.63099
 agactctgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtg       c.*4500

          .         .         .         .         .         .       g.63159
 tgtgtatacacacacacatatatatacacacacccccaggagaccttttgtctttcttgg       c.*4560

          .         .         .         .         .         .       g.63219
 ttcatgtgcccatcagtgtgggcaggagaatagaatactctgtccacacttgagtcttag       c.*4620

          .         .         .         .         .         .       g.63279
 tcacctttggagcctaggagtcagccatcctcattcaactacatggatcgagaatgggaa       c.*4680

          .         .         .         .         .         .       g.63339
 tctgggagaatttttttatgggcagattaaaaaggaagttaactatgtaaagtaaggcat       c.*4740

          .         .         .         .         .         .       g.63399
 tgccttcccaccccatcccacctcagttcgtgttaaattatgaatttttctaagagagtt       c.*4800

          .         .         .         .         .         .       g.63459
 ctttaatgacatggatagagaggaagctgaggtggcagtagagtagggagtggaaggcaa       c.*4860

          .         .         .         .         .         .       g.63519
 atacataagatactattaaactgtgaagctgtttgttacaattccaagattttataattt       c.*4920

          .         .         .         .         .         .       g.63579
 ctccaacaaaaaacatttgtattttcttcccagtttaagttcaatgttaatttgagaaat       c.*4980

          .         .         .         .         .         .       g.63639
 aattctactctcaaacttcatgttatgctgacagttcaactgatgctgtcaaaatgtgaa       c.*5040

          .         .         .         .         .         .       g.63699
 ttactaacttcagtattctctattcatctgatttttcttaaaatgtttgcgtgttaatat       c.*5100

          .         .         .         .         .         .       g.63759
 actcactagctttaatgctctactcttatactggcaccttaattatggtaaaaggtaaaa       c.*5160

          .         .         .         .         .         .       g.63819
 ggttaagttaaaattcccaatcctagttatttggtcaaacagaagattaacagaactcca       c.*5220

          .         .         .         .         .         .       g.63879
 tggcttaccacaggaatatttatcaagagaaaaagaagatacctatttgaatttacatga       c.*5280

          .         .         .         .         .         .       g.63939
 cactttctgtgaaatatctggattaccagattagtctgaaacaaatgccttccaaattct       c.*5340

          .         .         .         .         .         .       g.63999
 acagcgcatgcccaaggcactctttacagtacctgttcgggtcttttcttctaattttaa       c.*5400

          .         .         .         .         .         .       g.64059
 gcacctacccaaacgtcttcccaggcttgtcataataagcaaataacctcagagcagaca       c.*5460

          .         .         .         .         .         .       g.64119
 aagtgattcaatctaagaaccttgaatttctctccttttcacctcaaaatttctattctc       c.*5520

          .         .         .         .         .         .       g.64179
 acactttctttttgtttctctttccgagaagtggttctccatcagcaaataccaactgtt       c.*5580

          .         .         .         .         .         .       g.64239
 ttctgtcctctattatttattccatctcttcctcctgatccctgccccatgttgaacccc       c.*5640

          .         .         .         .         .         .       g.64299
 cattgccccactttgatccttcagtctcttcctcacatccagaactgtaccagatttact       c.*5700

          .         .         .         .         .         .       g.64359
 cccttagcacactgattaaaatttatttccatttccttatggaggaggtattagagactg       c.*5760

          .         .         .         .         .         .       g.64419
 atcccagacctctacaaatttcattgtggcagggtaatgttatgtgtccataaaccttgt       c.*5820

          .         .         .         .         .         .       g.64479
 tccttttctttcagcctgcagttaggtagagccatgtcatttatttgtaactattagaat       c.*5880

          .         .         .         .         .         .       g.64539
 atgggtatatgggttgaagtaatgtaggccatttccagacatggcccataacacttctca       c.*5940

          .         .         .         .         .         .       g.64599
 agagattcttcatattctatctcttcccctccaacatgcacccttcaaggttgaagatgg       c.*6000

          .         .         .         .         .         .       g.64659
 caccacacaagatagaaggagccagtgttccaaatgactaggcagagcagaatgctcccc       c.*6060

          .         .         .         .         .         .       g.64719
 tccctacaccctagcaccaattggtttggatgtgatagttgaataatacacttttattgt       c.*6120

          .         .         .         .         .         .       g.64779
 tttaagacattaatattttgagattaatctgcaagtctagttagtaaaactcgaactctg       c.*6180

          .         .         .         .         .         .       g.64839
 agctgtctaatgcagtagcctctagccacatgtagctatttaaatttaaattttaatttt       c.*6240

          .         .         .         .         .         .       g.64899
 aattaatcaaaattcaactcagatatactagccacatttcaattgctcagtagccacact       c.*6300

          .         .         .         .         .         .       g.64959
 aattaaatttaaatttaaatagctacatgtggcttatagcaccataccagatagcacaga       c.*6360

          .         .         .         .         .         .       g.65019
 tgtagactgtttccatcatcacagaaaattctattggatagtgctgccttaactaataag       c.*6420

          .         .         .         .         .         .       g.65079
 acacaaatgttcttattttttaaatagtccctaaaacaaacgaaaaacaaagaactccct       c.*6480

          .         .         .         .         .         .       g.65139
 tctctaatggcaaatttcagtttgcctaaaagaagactcagaatgcttttcttatattgt       c.*6540

          .         .         .         .         .         .       g.65199
 tacctctgactgccactaaatgaataaatttcctgtcttgctccttctgccaaacttctt       c.*6600

          .         .         .         .         .         .       g.65259
 gaatgggtgatctttaactccttgcaatcctggcttttttccccagtgctcacctgtaat       c.*6660

          .         .         .         .         .         .       g.65319
 cagtgttggccacaactcccacccagatgtctcctaaatagttctctgaacccacctctg       c.*6720

          .         .         .         .         .         .       g.65379
 tcctgatctacagacattcattccaatgctttagcatttcaaggtcatcaaatgactcag       c.*6780

          .         .         .         .         .         .       g.65439
 tgacatctcagacagtcagacagaccaggtcaactatgaactatttatgccaaaccttac       c.*6840

          .         .         .         .         .         .       g.65499
 atggttcatgttatccttgctatcccatcaaaataaccacaggctttttttttttttttt       c.*6900

          .         .         .         .         .         .       g.65559
 tttaatttttgagatggagtctcactctgtcaccccgactagagtgcagtggtgcgatct       c.*6960

          .         .         .         .         .         .       g.65619
 cggctctgctcactgcaacctccgtctcctgggttcaaacagtgctcattcctcaactcc       c.*7020

          .         .         .         .         .         .       g.65679
 caagtagctgagattacaggcatgcaccatcacgcctggctaatttttctatttttagca       c.*7080

          .         .         .         .         .         .       g.65739
 gagatggggtttcgccatgttggccaggctggtctcgaactcctgacctcaagtgatctg       c.*7140

          .         .         .         .         .         .       g.65799
 cccgcctccacctcacaaagctttgggattacaggcatgagccacggtgcctggcctgca       c.*7200

          .         .         .         .         .         .       g.65859
 gcctcctttattttacaaaaggcattaccacttaaacactgaagatagcacgaatctctg       c.*7260

          .         .         .         .         .         .       g.65919
 atgtttgcaagttcagaataaaatggaaatgaaaattcattatgtggcagtctcagtact       c.*7320

          .         .         .         .         .         .       g.65979
 gagcacaaaggcttttaaccacaagcaaattactgtgctagccagaccgtgtgagagaac       c.*7380

          .         .         .         .         .         .       g.66039
 tccaggccagcttgctaaaactgagcaggagaatttggagagagtccagaggagagccac       c.*7440

          .         .         .         .         .         .       g.66099
 agaaacaactgaagcatgacaagaataattgcagttctgttatagagaggtcatctatat       c.*7500

          .         .         .         .         .         .       g.66159
 caggcttttatggagtaccatgtggaatgttaccacgcagagcatggggaacagctgttg       c.*7560

          .         .         .         .         .         .       g.66219
 tgactcaacaagagacaggacagaagaaatgagaacaggtggaagatcaataatttaggt       c.*7620

          .         .         .         .         .         .       g.66279
 ttgatatggggaaagatggaacagtcaaagggattcacactgatttttggctgagcagaa       c.*7680

          .         .         .         .         .         .       g.66339
 ggcagagtctcctccaacgggcaatgtaagtgcccccactcatctacaccccgagaagag       c.*7740

          .         .         .         .         .         .       g.66399
 ccatcaaactgtattaaacttggaaaaagctatttaacttcaagtgtgctgcgagaaaac       c.*7800

          .         .         .         .         .         .       g.66459
 ttcataatagttcctaagatgtgctaaaaagtaaagtccaaaaagatcataaagtctgta       c.*7860

          .         .         .         .         .         .       g.66519
 gagaagttctaagagtgcagtcagctataaaaacctagcaatttaatttcttagaaaaat       c.*7920

          .         .         .         .         .         .       g.66579
 gtagctggagttcaaactgtagtaacaaaggcaagtaaattaagttgtgggcaggtgtaa       c.*7980

          .         .         .         .         .         .       g.66639
 ttaagttaataggaatggcagggatgaatataaatcagaacaggactaacagtttgaaac       c.*8040

          .         .         .         .         .         .       g.66699
 attagatattcaaatgctcagagctgatgagccgagccactacgctaacaactctgcaaa       c.*8100

          .         .         .         .         .         .       g.66759
 ccaaaggtttcacaaattgcacaagaacctggcctcgatcccattgtgttgctggcataa       c.*8160

          .         .         .         .         .         .       g.66819
 gattagaagggcctgttggttcaattgttgctttggacagaggaggacaaacttgccaca       c.*8220

          .         .         .         .         .         .       g.66879
 gtgaagaaatcatttttaaaaaccaccactgtcctttagtgcactaatttctctaataac       c.*8280

          .         .         .         .         .         .       g.66939
 taggtgtatattagaaataatgatatataagtgcagtatactccagtttcaacagaatgg       c.*8340

          .         .         .         .         .         .       g.66999
 tgtcacttctgtaaaatgttgattttcagattgtcatactttctaaatacaaaaatttgt       c.*8400

          .         .         .         .         .         .       g.67059
 cacagcttccacatttacaagatattaaacattccataaaatatttgtagaaatatgaaa       c.*8460

          .         .         .         .         .         .       g.67119
 aaccaatttttgtagttgccttttgaaatgtatacaaaatatcccacatgggcaacatgg       c.*8520

          .         .         .         .         .         .       g.67179
 taaaacctcgtctctacaaaaaaaaaaaaaaaaatacaaaaagttagccaggcctggtgg       c.*8580

          .         .         .         .         .         .       g.67239
 tgcacgcctgtggtcccagctactcgggaagctgaagtgagatcacctgtgcccaggagg       c.*8640

          .         .         .         .         .         .       g.67299
 tcgaagctgcagtgagctgtgattgcaccactgcactccagcctgggtgacagagtgaga       c.*8700

          .         .         .         .         .         .       g.67359
 ctttgtctcaaataaacaaaaagagacatatacaaaatatattagaaagttgggttaata       c.*8760

          .         .         .         .         .         .       g.67419
 tcctacaaacaaagtattacatagtttgcacaggattatgtgtgtaaaaagttttaaatt       c.*8820

          .         .         .         .         .         .       g.67479
 cagtatagcttttatttctgcagaactaaaagtagtgcataaaaataaaagtgggatgag       c.*8880

          .         .         .         .         .         .       g.67539
 catatctttttaatttgctatgcagtaaaaagtatctcagtcaacatataggaaaccagt       c.*8940

          .         .         .         .         .         .       g.67599
 gccatttctgtatcatttgacaccgaaggggtattgttttttgttttgttttgtttttct       c.*9000

          .         .         .         .         .         .       g.67659
 tttgaagaaagacttttatgtcttttattctattcttccgatttggggtttaaattaccc       c.*9060

          .         .         .         .         .         .       g.67719
 ccaataagtttgcagaatattctgattactactgcttaggtgatatatttcatatgagaa       c.*9120

          .         .         .         .         .         .       g.67779
 ctatctttacacaatgggaaaaaatatggtaaccacttcattcatcagagaagttgtgtt       c.*9180

          .         .         .         .         .         .       g.67839
 ttgtttacttgtattttgtttgctaaatgaaattggttatttagactcatggcatgcttt       c.*9240

          .         .         .         .         .         .       g.67899
 ttctcaaatggagatttaaaagtcatttccaatgtccttctaacttctggccaattccca       c.*9300

          .         .         .                                     g.67932
 gtaggctatagaataaacagttttcatataata                                  c.*9333

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Dihydrolipoamide branched chain transacylase E2 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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