LPS-responsive vesicle trafficking, beach and anchor containing (LRBA) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the LRBA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering LRBA transcript NM_006726.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .                                                         g.12
 CTCTGGTCGTAA                                                       c.12
 L  W  S  X                                                         p.3

          .         .         .         .         .         .       g.72
 gacagcgccatggcccggattccagcgtcacatcctggataggcaaagagctgcttgagg       c.*60

          .         .         .         .         .         .       g.132
 tccgacacctgccggaccacgaccactcctctgtctcctcctgtgagcaggtactgccca       c.*120

          .         . | 02       .         .         .         .    g.4637
 tctcggctcagctggatggc | tcttatgttatcatctgtttccatcgtggcctggagtttt    c.*180

          .         .         .         .         .         .       g.4697
 ccattcacactgaatgtacagaagaggccgttttcatagaatatgacacaatgaccctct       c.*240

          .         .         .         .         .         .       g.4757
 cttgaagcctgaatgagttttggtttcaggcagttttcaggaccctccaaggtcctcaac       c.*300

          .         .         .        | 03.         .         .    g.8103
 aagtctccattcatggaatgtatgagacatggtcctt | cttgtgaaccactcaacaccagg    c.*360

          .         .         .         .         .         .       g.8163
 cctagctccgcacacaccgcagcacatgtgacctcatagtcatggccggtcaaaatggcc       c.*420

          .          | 04        .         .         .         .    g.24813
 cgaggagcagcagtctcac | tgcctgggttatctccaatcccactgcattttccattccaa    c.*480

          .         .         .         .         .         .       g.24873
 taccacagcaaaagagttgcatcacgtgaccctgagagaatgtagcaatttcccccaata       c.*540

          .         .         .         .         .         .       g.24933
 tatgactcagaacgagcaaggcaagtgacgacatcccaatggccaaacaccacttggatc       c.*600

         | 05.         .         .         .         .         .    g.32429
 aatcttc | ctgtgtctgtagaatagactctgaaacttttatcccagaagccacagacgaga    c.*660

          .         .         .         .         .         .       g.32489
 atatagcggttgtctgaagtgatgacaaagcactgggaatgcacttgaatactttggtct       c.*720

          .         .         .         .    | 06    .         .    g.37725
 aaaaggtcagtgatttgcctcctgtgcattcctgtattgctgg | ctatgagaggatcgatt    c.*780

          .         .         .         .       | 07 .         .    g.43352
 tccactggcagctggtatggctggtcttgtacagcaccttgatgag | caggaaggttgtgc    c.*840

          .         .         .         .         .         .       g.43412
 catttgttcaccgcaaataacctgttagcagtgactgtgatcacagcgggagttgccaaa       c.*900

          .         .         .         .         .         .       g.43472
 ccaggctgggtgttggctgccacgtgagtaacaggggagttggagggaaacttgaggacc       c.*960

          .         .         .         .     | 08   .         .    g.47972
 atgataacatcctgctgggctttgtctgtgaacatcaatggact | cacttgcatggcagaa    c.*1020

          .         .         .         .         .         .       g.48032
 cctctgggaggatggggctctatgagtagttgagaaggagtctgtccaaaacttcggatt       c.*1080

          .     | 09   .         .         .         .         .    g.72185
 tgagcttcaacagc | ctctctcaacacaggatcagttattgaattcagattgacagctcct    c.*1140

          .         .         .         .         .         .       g.72245
 tcataggtcaagtaatagaacacattgagggctcggacagcttctggtccttgctgttta       c.*1200

          .         .         .         .         .         .       g.72305
 tagccaaaaatgagatcaatccattggtgaagctggcaggaaacaaattcactctccagg       c.*1260

    | 10     .         .         .         .         .         .    g.137643
 gc | caatctgtttatgtgaacaaattcttctgaggttttggcccaaggaggaagttcgaca    c.*1320

          .         .         .         .         .         .       g.137703
 tcagacactactgtcccatcatccatcactccaagattataattattgaagttgacaaac       c.*1380

          .         .         .      | 11  .         .         .    g.157761
 atctcagggagataataaaattcagggatcaactc | cttaatatcagaggtatcacgctga    c.*1440

          .         .         .         .         .         .       g.157821
 ctgtttcgccaagctctggaaattgatgaaaaagttcgatctgcatgatcaaatttgcct       c.*1500

          .         .         .      | 12  .         .         .    g.158896
 ccttgcaaatttaggaaataagttgtaaagggttc | tattcttagcagccatgcaagaaca    c.*1560

          .         .         .         .         .         .       g.158956
 aaacttgcagttgagtaatgagtaccatagtgaaactttggaacttgatcatcttcccat       c.*1620

          .         .         .         .         .       | 13 .    g.189824
 gattcataacgctcagcgaagaatgctgctctttttgggttcagagctcctattgg | cttg    c.*1680

          .         .         .         .         .         .       g.189884
 gacaaatctctgaagttggtgggcaaggtaagatccagttcttctgattcataattagtg       c.*1740

          .         .         .         .          | 14        .    g.193782
 atgacccaaggaaacactggatactgatttaagtcattataactccgtc | ctgctatcgtg    c.*1800

          .         .         .         .         .         .       g.193842
 ttgagaaacatcaagtactcaaaattagatatctctctgtgttgccatcgctgggtcata       c.*1860

          .         .         .         .      | 15  .         .    g.209894
 ttagaagccttaaaaagctgacgtggactagctaatgaaatacgt | ctggtttgaggcaat    c.*1920

          .         .         .         .         .         .       g.209954
 ccaaaacttgttccaacgccaacacgaggtagatagttaaccactttctttactgttgca       c.*1980

          .         .         | 16         .         .         .    g.213097
 gggtctgggaagttgaacatcacagcaa | ctctgtttgccataaagatctccagggctgta    c.*2040

          .         .         .         .         .         .       g.213157
 ttttgcaaaagataacgacgagaaaagattgatcgtatctctgtgaacagccattttcca       c.*2100

          .         .       | 17 .         .         .         .    g.310229
 tgcagcccttctgtatatgccaagat | cttggggtcgatttttttgaagttaggatcctct    c.*2160

          .         .         .         .         .         .       g.310289
 tcatccacctcaaaatagagttcggaggaggtgacagaaagagtgccctttactacaaca       c.*2220

          .         .         .         .    | 18    .         .    g.312877
 gagggggccacaagctgagctggtgtgctcaggctaacaggac | cggcaagattctctaaa    c.*2280

          .         .         .         .         .         .       g.312937
 tctttctcatccacggatgacagagtatcatcatcgccttccaggaggatctcgttttct       c.*2340

          .         .         .         .         .         .       g.312997
 gagttctgatttcctaaagcctgactcctgatggactgttttcctttagcaaggatatct       c.*2400

          . | 19       .         .         .    | 20    .         . g.321171
 tcatctgtgg | ctttgctgttctctctcaatttaaaaatgcaca | catgttccacggctgtt c.*2460

          .         .         .         .         .         .       g.321231
 tttagtgtcgcttcaggatgtgtcgatcctagagggttacgcacaaatcgtcgccggcgc       c.*2520

          .         .         .         .         | 21         .    g.405710
 cgcaagtcatcttcccagtagtcaaggcgccagaactcaagaggacga | ctcactgcagaa    c.*2580

          .         .         .         .         .         .       g.405770
 tttccccaggctccatgcttgtctgtgagaatgttgataattttctggattagttgagtt       c.*2640

          .         .         .         .         .         .       g.405830
 gctgtcacgtggtcacgatattttgctgctcttatcaaatgatcacacatcttctcatct       c.*2700

          .         .         .      | 22  .         .         .    g.457430
 tctcgtttgtctgcagaatactgggcacacagtga | ctcaaattccgcatgtctgtgaata    c.*2760

          .         .         .         .         .         .       g.457490
 tcttctgctctctgcctgctcaggataaattcagcttcatttgctactcttactagatga       c.*2820

          .         .     | 23   .         .         .         .    g.483966
 tccttcattgtctggctaagcaac | cttccttcattgacaagttcgataaaagcaaggcct    c.*2880

          .         .          | 24        .         .         .    g.520259
 gcattcttctgaatagaattttgccactc | ctgagaacacagtagcataaccaattccaca    c.*2940

          .         .         .  | 25      .         .         .    g.528447
 actgaactactcgacttcatgcaaaccagac | ttgttccttctataagcagttcttgtcca    c.*3000

          .         .         .         .         .         .       g.528507
 tggctacccaaaagtgtccgagaaagaaaaggtgcaaaatccacaaaaatctcacgaagg       c.*3060

          .         .         .         .      | 26  .         .    g.530482
 agaggagctgccttttccaaagcgtgttcaagcctctctgtaata | ctcatatttgaaacc    c.*3120

          .         .         .         .         .         .       g.530542
 ggatcttgtgaaactgaatcaactgttggaactgagggcaattttgcattagatgatcta       c.*3180

      | 27   .         .         .         .         .         .    g.539327
 ctgc | ctggtgattctcctcccatatctgaggcttgggctgaatctactgaggaaaccaca    c.*3240

          .         .         .         .         .         .       g.539387
 ctgacagcattggtaggtatgcttgtattaaaggtggaaggtgagactgctgactttttt       c.*3300

          .         | 28         .         .         .         .    g.550369
 gctgcaacaatgacactt | ctgtcaaaagatctgaactgcacgggttgttccacagataga    c.*3360

          .         .         .         .         .         .       g.550429
 tcaccaagggctccaaggcaggctggtggcagaagggcaggatccactgtgactccatct       c.*3420

          .         .         .         .         .         .       g.550489
 gctggtatgttaaccaagcttcggagaatgtctttcacattgacgttttttgaaactgaa       c.*3480

          .         .         .         .         .         .       g.550549
 actgacggtgtagccttagtgtccaagtcatttcctctatcatttttggtttccggagac       c.*3540

          .         .         .         .         .         .       g.550609
 ttattgacttctaaagaaagagtagatagcacctcgctgattgcatctgggcctgcactg       c.*3600

          .         .         .         .         .         .       g.550669
 acaccaggaggtgctgtgtgaggagttacttccacatggcttcctaaaccagtggctgtt       c.*3660

          .         .         .         .         .         .       g.550729
 tcttccccaatgcctgagtccctccttcgagcagatgatgtgctttcagattcttccact       c.*3720

          .         .         .         . | 29       .         .    g.553984
 gatgccgtagttaaagtgctgaatgctgctggtgtgattt | cagagagtgatacattctca    c.*3780

          .         .         .         .         .         .       g.554044
 ttttcactgccagtttctgtacatgactggctatgcctttcattttggggttccaaaatg       c.*3840

          .         .         .         .         .         .       g.554104
 tctctgtacttggagaccataagaacagagataaagtatactactgccaaggctaaaaat       c.*3900

          .         . | 30       .         .         .         .    g.566287
 tgagcttgtttgctatcctc | tatgtctctgaaaacaactgccctaagccgattaatatcc    c.*3960

          .         .         .         .         .         .       g.566347
 atgtcctgtagaagcctgtcaagatctcttactggagatataccgccagtcacaatgtcc       c.*4020

          | 31         .         .         .         .         .    g.566857
 actgggct | cttcgctgcagatttccctaaaggaataaggctatgcattggtttcaaggct    c.*4080

          .         .         .         .         .         .       g.566917
 ttatctcccctagttttcagttgtgaatgctgttgacactccaagcaattccttactgcg       c.*4140

          . | 32       .         .         .         .         .    g.571015
 actgcacaaa | ctagtcggagacactgccgcaaaattcctccagatgacatacttttttca    c.*4200

          .         .         .         .         .         .       g.571075
 gcttcaatttcagtaaagccaagagaacttgcaaatataagcacatccacaaggctaatt       c.*4260

          .         .         .         .         .         .       g.571135
 agcctctgcaaaaatgtcacagaggcttctattgaaaggccttgagtaggttcaatattt       c.*4320

          .  | 33      .         .         .         .         .    g.571618
 tccagttcatg | tgtagccgatgtagcagctgaaagcaatggcagtatacccccacaagcc    c.*4380

          .         .         .         .         .         .       g.571678
 atgaccatattgtccatcacttgagagatgagatgaattgtgttgtgtacaaagatgaca       c.*4440

          .         .         .         .      | 34  .         .    g.572886
 ttatcactgctattcacgaagtccataactgtctttgttgaatgg | cttctccacatctgt    c.*4500

          .         .         .         .         .         .       g.572946
 atatctgtttctattgaaaataatagatcagtgagcaaacgttgatgcatctgagaccag       c.*4560

          .         .         .         .         .         .       g.573006
 ttgaactcaggaatacgaaacacagtagatctggaatccctcctttgtccattaactgca       c.*4620

          .         .         .         .     | 35   .         .    g.574048
 tctggtgctattccttgccctggctgctcatgttgccttgatat | ctcaagcacatgtcga    c.*4680

          .         .         .         .         .         .       g.574108
 tgaggttgaggtgcttccacgttgggactggccttcaactccagcctctcagtatctgta       c.*4740

          .         .         .         .         .         .       g.574168
 gcaacattggaaacatccaacttcgcaatcttttgctcagaagaagcctcagagacacta       c.*4800

          .         .         .         .         .         .       g.574228
 ccatgacaatcattaattaatttggtttctctagtgaggttagttgctttcttcccttcc       c.*4860

          .         .         .         .         .         .       g.574288
 tccagcatctgaccaaggtctgattctacagctatttgggaaacagtagtttctggtgac       c.*4920

          .         .         .         .         .         .       g.574348
 atagctgaagaccctgatgctgtcatagtctgaattccagaatctttagaatcttgagtt       c.*4980

          .         .         .         .         .         .       g.574408
 tcagtatcagtttgcttttcagtaacaggttttccttcttgaaatattaatttgtcatca       c.*5040

          .         .         .         .         .         .       g.574468
 ttaccaaacatgtccagtttttcaccggcttcagatgcagctggagacaaactgttatct       c.*5100

          .         .         .         .         .         .       g.574528
 tggagctctgtgggtagattagcttcctcagtaggactgccttctactttcagttccaca       c.*5160

          .         .         .         .         .         .       g.574588
 taatcatcatcttcctcttcctctactatagatttatccaagaattctggcatctctgag       c.*5220

          .         .         .         .         .         .       g.574648
 gcatcctcttctgaaggagaacttatagaagcagttacttcactgacagtcattgaatct       c.*5280

          .         .         .         .         .         .       g.574708
 ttgccagttgttataaaagaattagaggaaatagccacagcttctattatgtcagaagat       c.*5340

          .         .         .         .         .         .       g.574768
 acttctaaatcatctgcattccttgtctcatttgtcagtgtttcttccaaagtgccttca       c.*5400

          .         .         .         .         .         .       g.574828
 tctggtaactcctgattttcttgctcagctttcatttcttcataagatgtattagtagtt       c.*5460

          .         .         .         .         .         .       g.574888
 tgcagttcaatattagatgcagattctagtgaacttgtcttctctatacttgaattttca       c.*5520

          .         .         .         .         .         .       g.574948
 ttaccatttgtggtgaaatgaggacagacaggagaatccttcgtatctggttgctgggat       c.*5580

          .         .         .         .         .         .       g.575008
 cctactgaaacattaatatcccttctaatgccagaggctgcttgaactgaagttgaagaa       c.*5640

          .         .         .         .         .         .       g.575068
 cacagccctatttcttcatcaacttttccttgctgttccctaaatatattggcaaggttt       c.*5700

          .         .    | 36    .         .         .         .    g.589855
 tctttgtgtatttcaaaagtgac | ctttgaatgagtgattgataaagtgtctacccataca    c.*5760

          .         .         .         .         .         .       g.589915
 cgccagccaccccactcatatttgactgcatggtaaagcaggattctgaatatggcgtat       c.*5820

          .         .         .         .         .         .       g.589975
 accatttctgttatcttttgctcatctgaattcttaggattaaaatagcagagagaaagc       c.*5880

          .         .         .       | 37 .         .         .    g.590353
 atccattcttgccacacagagcattgtagcaagctc | ctcctgttttctctactgttatta    c.*5940

          .         .         .         .         .         .       g.590413
 aaaagtttaatcatgtcagaaagaaaggctctgcgaacctccatgctctctgggcactgg       c.*6000

          .         .         .         . | 38       .         .    g.592692
 ggagaatttcgaagtagggtcgcaattacttttagtatct | gagggttttgtatcttcact    c.*6060

          .         .         .         .         .         .       g.592752
 gaagaatcaggatctggatgctgtttatgtatcacctgagtaccaatctgttctataaga       c.*6120

    | 39     .         .         .         .         .         .    g.593550
 at | ctcaaacagcacattatatgtggtcattgtgattaaatttgtctgaagcatgagcctt    c.*6180

          .         .         .         .         .  | 40      .    g.594819
 tcagctagcaatgaaaacaatccatgtccaagcatgacttctgctttcctc | tttggggcc    c.*6240

          .         .         .         .         .         .       g.594879
 agatgttttaaaaaataacccattgccttaagagcttgtaccctgattccttcacttttc       c.*6300

          .         .     | 41   .         .         .         .    g.615235
 gatgccagaagtttgtagataaca | cgtaacccattcctttggtcaaaagcaggaatcata    c.*6360

          .         .         .         .         .         .       g.615295
 gagttagggtgttctgacattaatgcaacaagcagctgtaggacatccattagattgtca       c.*6420

    | 42     .         .         .         .         .         .    g.618599
 tc | ctcatgcatagtcagtaggtaattaagaatggcctgtaattcatcttcctttactcca    c.*6480

       | 43  .         .         .         .         .         .    g.619941
 gaatc | cttcatcactaattgcttaatgaacatcaacaagaatgctcgtagagaaagcatt    c.*6540

          .         .      | 44  .         .         .         .    g.622231
 tctttttgattaggtcgcggtccat | ctaatccttttggggtgataccacttcgatcctga    c.*6600

          .         .         .         .         .         .       g.622291
 ggattcactgcccagtagtagtacttcagcgtgtgcatgatgagaagcactgttccaact       c.*6660

          .         .         .         .         .         .       g.622351
 ctccgaatggtgttatatatgttgactgtaccaatgaattccgtggacagataagtatag       c.*6720

          .     | 45   .         .         .         .         .    g.628031
 agcatcagttgaac | cttggctggggtatgaatccatatggcaggattaagaagaacgtga    c.*6780

          .         .         .         .         .         .       g.628091
 tcacacaattgcttgagcaggggcatcccattctgcagattactcagatattttgaaaat       c.*6840

          .         .         .         .        | 46.         .    g.628457
 gcaaggcaaagttcaagtactgctctgctaacatgagatttggaaga | cttttcaaggcta    c.*6900

          .         .         .         .         .         .       g.628517
 tatcctattaccaagaagcccttacaggcaagcatctgttcctgcatagcaattgagttc       c.*6960

          .         .         .       | 47 .         .         .    g.630505
 ttcaacaattccatgataaaggccagcaaggttgaa | catatagtcaaatcaatctcatca    c.*7020

          .         .         .         .         .         .       g.630565
 gacaaatattgcctgtaatccaactgtgcaaaaagtggaaatagtacttgtactcctcca       c.*7080

          .         .         .         .         . | 48       .    g.630817
 attgaatgcattgcactttggatggaatgtgttaaaactgcctttacatc | ctggagcatg    c.*7140

          .         .         .         .         .         .       g.630877
 agtgcatgtggtgaatgaacaaaaattgaagggttgtccttaggagatgattcaagacaa       c.*7200

          .         .         .         .         .         .       g.630937
 agctgggcatctgtagcccgtggattgtacgtgaatgcaatggcactagagagtttccca       c.*7260

          .         .         .         .         .         .       g.630997
 tcgtacaataaaagtttgtgatgctcagcaaggaaaaggtcgctttctgctttgaattta       c.*7320

          | 49         .         .         .         .         .    g.636394
 aatgtacc | cttgtatcccaggcccaactgataaatagcaaatatctgagctgcatttaga    c.*7380

          .         .         .         .         .         .       g.636454
 gcttcactgaaaaggtaaactgcagtcatctgaccacagaatactctattagcatctgct       c.*7440

          .         .         .      | 50  .         .         .    g.637780
 gtttctgatgagcccaggaaacatttgtcaaaggt | atcgctagtgttgacaaaccatgtt    c.*7500

          .         .         .         .         .         .       g.637840
 atctctccataggaagccagctcaccattcacataacatcgaagttcactattcttccat       c.*7560

          .         .         .      | 51  .         .         .    g.638573
 cggttatagatgtgtactatggtaaccatatacca | cttttgtggcttgaaatcaaatttc    c.*7620

          .         .         .         .         .         .       g.638633
 acacagtgttgaaagccttttccttttgactttattgatgttacaatcaaacagcctcca       c.*7680

          .         .         .         .   | 52     .         .    g.638782
 acaaaatgagcagaatagccaagacctttgctggttctgaaa | caatacaaatatggttta    c.*7740

          .         .         .         .         .         .       g.638842
 tccttatctacattgatgttatttacaggatccattctaagccatgtatgaaatgtaaaa       c.*7800

          .         .         .         .     | 53   .         .    g.643361
 ccattctggtatggccatttggctataggaggtaatgcaatagc | tgcagcactctttcct    c.*7860

          .         .         .         .         .         .       g.643421
 ggaaagttaaaaaaggcatcaggaccatacttctgaggcatatgctttaacacagacagc       c.*7920

          .         . | 54       .         .         .         .    g.650703
 aacttcccagcatgtggagg | ccatcgtcctttatctccttgaagtttactgaagaaaagc    c.*7980

          .         .         .         .         .         .       g.650763
 tttagctcgcgaactgtcaaattatagctagccagcactcccaacatgtcaaccaaaaga       c.*8040

   | 55      .         .         .         .         .         .    g.651040
 t | ctgctatcatattgtcaactttttcaattttcccaagcactttttcaacaaggcctact    c.*8100

          .         .         .         .         .         .       g.651100
 tcagtgcagacttgaagattccgtatgcttttcttcagaatggctgtaaacatgctccag       c.*8160

          .         .         .         .         .         .       g.651160
 acttctgcttggcacgtaatgtcacatttttccagtaggtccaccatgcagttaatactc       c.*8220

          .         .         .         .         .    | 56    .    g.736581
 tcaccttcttggataatgaaattcatttccagatcaaactgtcctcctaccaa | caggtta    c.*8280

          .         .         .         .         .         .       g.736641
 aagacagtttctacaatatccctattggatacttctccaacttcaaccaaaccggtcaac       c.*8340

          .         .         .         .         .         .       g.736701
 acggcaaatttcattctgatgcccctgatggggagccctggtttcagagacaatgcaccc       c.*8400

          .         .         .         .         .         .       g.736761
 ccttcagtaggggtttcttctctccctccacctcccccgtcatcacctgttggtggcggg       c.*8460

          .         .         .         .         .         .       g.736821
 gaagggacacgattgtcttcgctagccattgctagctcacgataaaggacaactcagagt       c.*8520

          .         .         .         .         .         .       g.736881
 caccctgggacggcagtcgctgcactggtaatgagcacaacacacgcaatgcaaaacgaa       c.*8580

          .         .         .         .         .         .       g.736941
 agggtccctcttccaacttgtggagataccccaaagcagttgatgtggaaagtccttggc       c.*8640

          .         .         .         .         .         .       g.737001
 gtcgccctcctcctcttggagaatatttgtccaatctctctccccgaggctgacaacaac       c.*8700

          | 57         .         .    | 58    .         .         .                           g.737672
 gccaaacc | ctggtcgcagcctccaagtttccct | a                           c.*8734

 (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 10^th nucleotide is indicated by a "." above the sequence. The LPS-responsive vesicle trafficking, beach and anchor containing protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.