lysosomal trafficking regulator (LYST) - coding DNA reference sequence

(used for mutation description)

(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the LYST gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering LYST transcript NM_000081.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 CTGATGATGGGCTTATTTGATTTGGGAAATGTAATTTCTCTCACAGGCTTTAAGTCCCAT       c.60
 L  M  M  G  L  F  D  L  G  N  V  I  S  L  T  G  F  K  S  H         p.20

          .   | 02     .         .         .         .         .    g.529
 GTGCTCCATAAC | CTTACAATTCCATTTTCTAATCCCCCAGCGATTACATTGATAGATACT    c.120
 V  L  H  N   | L  T  I  P  F  S  N  P  P  A  I  T  L  I  D  T      p.40

          .         .         .         .         .         .       g.589
 CCCTCAGGCTGGTTGGAGAAAGCCACGGAACAGATGATCTCCCTGCAGTGGACATGTCCA       c.180
 P  S  G  W  L  E  K  A  T  E  Q  M  I  S  L  Q  W  T  C  P         p.60

          .         .         .         .          | 03        .    g.13118
 ACGAGATCCCCGTTCACCGTCCAGAGTCTGAGGTCACTGCCTCCGCCAG | CTGAATCACAC    c.240
 T  R  S  P  F  T  V  Q  S  L  R  S  L  P  P  P  A |   E  S  H      p.80

          .         .         .         .         .         .       g.13178
 ACAGTAGCAATATCACCTGAGGTTTCACTGGCAGAGACAGCTGTGACAGGGCTTTTGTGT       c.300
 T  V  A  I  S  P  E  V  S  L  A  E  T  A  V  T  G  L  L  C         p.100

          .         .                                           g.13199
 CCCGCCAGACTTTGTACATAG |                                           c.322
 P  A  R  L  C  T  X                                             p.106

        | 04 .         .         .         .         .         .    g.13550
 cataac | ctgtttaaatcccatatgatgcaggttccgtctctgctcacacttatcagtata    c.*60

          .         .         .         .         .         .       g.13610
 ctgtatggtttgcaaacaaataagctggttatctcttctgtgtgaccatagagatgtatt       c.*120

          .         .       | 05 .         .         .         .    g.22999
 tgagtctccatttctatttctgatgg | cgtgctgcttgtaaatctgtttgtgtaggctgtg    c.*180

          .         .         .         .         .         .       g.23059
 atgacaccgcatttgcttccagtaaacagctggcaactgtcaggcacccaagcacaacta       c.*240

       | 06  .         .         .         .         .         .    g.29421
 gtcac | ctggtactgttgtgaactttgaataaagtttactggaggctcactttgtttactc    c.*300

          .         .         .         .         .         .       g.29481
 ttcaaccttaaaatattatcagcatatccccagctcaggatggctgaccactgaatgtcc       c.*360

          .         .   | 07     .         .         .         .    g.33137
 gtactgttcatgcttctcacac | cttgttccttgctatatgtcatcagaagacagaaattc    c.*420

          .         .         .         .         .         .       g.33197
 cgtgacaaaccacagattgctctggtgggcagagcctggagagagccaaatctttctccg       c.*480

          .         .         .         .         .         .       g.33257
 tggggctggctgaagcagaccacaggtactggagcactgggggaacccacgtattccccc       c.*540

          .         .         .   | 08     .         .         .    g.38791
 catttcaagccttttatccatgacaaaggact | cggataggtgatttctttgacctgttct    c.*600

          .         .         .         .         .         .       g.38851
 cgggtctccctgaaagcaaactgcactagcaaccccacagcagctggaagctctccttca       c.*660

          .         .         .         .         .         .       g.38911
 atattgagcttggctccaggtctgctcacatgggccatgtggaacagctgacggggagtc       c.*720

          .         .         .         .         .         .       g.38971
 tgcccgtaggtttttatcatggtttctagcgctcgtctctgaactggatcttcaactgca       c.*780

          .         .    | 09    .         .         .         .    g.45144
 gagacatccattccaaaatatgt | agcaggatgaaaaacattgatcgcttgaacagaagcc    c.*840

          .         .         .         .         .         .       g.45204
 ttccccttttgcttatacccaaacaccaagtcaatccactgacagatgttctgcgacacg       c.*900

          .         .         .         .         .         .       g.45264
 tagtcagactctagagcctgccgatggatgaggataaaaagacgaggatcattacgcgcc       c.*960

          .         .         .         .         .         .       g.45324
 caagggggaaggttgacgtgattaacccgttcaccattctgacgcacaccaaaatcaaaa       c.*1020

   | 10      .         .         .         .         .         .    g.48132
 c | cttcacggttaactaggaactctggaagatagaaaaactctgggataagttctttcaca    c.*1080

          .         .         .         .         .         .       g.48192
 tcagtcatagattcaaaagatgagagtcgccaagttgtatttgtagaatgaaaagttctg       c.*1140

          .         .   | 11     .         .         .         .    g.51255
 tctggaatgtcaaaactttgat | cttgataggctaaaaacattttagtgaaaggaggcatc    c.*1200

          .         .         .         .         .         .       g.51315
 ctgaccaggaagtgaagcacagtgccgctattggaatagtgggagccatagtgatagggc       c.*1260

          .         .         .         .         .          | 12    g.52729
 tgcacgggaggcatggggtcatcttctctggctcctttgcggtactcttcctccaagta | c    c.*1320

          .         .         .         .         .         .       g.52789
 ttgtatgtgtccacataacgatcttctttttctttatactgaacagctataggtttagag       c.*1380

        | 13 .         .         .         .         .         .    g.56731
 agattt | ctgtatatcaacagatcattgaggtcaagtgtctcactaacgtagtcagcaagt    c.*1440

          .         .         .         .         .         .       g.56791
 ataaatgggaacacaggatactgcatgagatcattgaaggatcggccagcatgtttgttt       c.*1500

          .         .         .         .         .         .       g.56851
 aagtgagtcaaatattcaaaattagtaatttgcccagtataccataaatttgtcagagcg       c.*1560

          .         .         .         .         .         .       g.56911
 gtgatgttaccatattccagaagattagggaggttatttgtgagtatattgtggtataca       c.*1620

          .  | 14      .         .         .         .         .    g.60093
 tcatcacgaac | cttggtgttatcaaatgccaacaggagtgttctgccatttgttagaaag    c.*1680

          .         .         .         .         .         .       g.60153
 atttctacagcattatctctcaattgccaccaacgcttgtgaacttctttaatttcttca       c.*1740

          .         .         .         .     | 15   .         .    g.64108
 tatgtccaggaaaatgatgctggttccaactctccctgaaggct | cgaactttcaactgta    c.*1800

          .         .         .         . | 16       .         .    g.65632
 tcagaagcattatcttccacaaaatacattccacatttac | ctagtaacaattcaccagct    c.*1860

          .         .         .         .   | 17     .         .    g.66881
 gtctctctagatggtgcaacactgatgcatcttcgattcact | cttatagattcacttgca    c.*1920

          .         .         .         .         .         .       g.66941
 gctttgtctttgacagtagaagagaaagaagaatgagttttgtcttcaaacaggtaagag       c.*1980

          .          | 18        .         .         .         .    g.67089
 agtggtggtttgacaacat | cttctgatttctgtctatccctaaggagatacttatttgga    c.*2040

          .         .         .         .         .         .       g.67149
 atagttaaataacatctctgtaaacgtctcctctctcgatttggcccttctgttggatcc       c.*2100

          .         .         .         .      | 19  .         .    g.69534
 aactgccatgaggttggatagtagatggggtcataccatactgct | ctatcatgtgtcagc    c.*2160

          .         .         .         .         .         .       g.69594
 tgctgaataagttcctgccaatgtctgctggcactcaaatctactttatacattcctcta       c.*2220

          .         .         .         .         .         .       g.69654
 atatgctggatcaccttttttctctcatttccttgggagagagacactgcctgggtgata       c.*2280

          .         .         .         .         .     | 20   .    g.69852
 tctgcagctattttagatatatcctttgattttgaatccagacgctgaaagaga | ctttgt    c.*2340

          .         .         .         .         .         .       g.69912
 tgattattgttaactgttttctgccaagcagctttattcactccttcttcagtttcatat       c.*2400

          .  | 21      .         .         .         .         .    g.70548
 ttcttttgttc | ctctttgatcattttaataaggtctgcttttgttgatgcactgggaggg    c.*2460

          .         .         .         .         .         .       g.70608
 atgcacttgtgaccacataacttcaaagcattcataagcagttctgctgtgcctagctct       c.*2520

          .         .         .         .         .         .       g.70668
 tcttcagtcaattcaccttggtgattatgtatcaactctgacaaatacaaaactaacttg       c.*2580

          | 22         .         .         .         .         .    g.77490
 gctccatg | ttgtagggatgggctgagacagtctcgtagtatttcctgatgatttggttca    c.*2640

          .         .         .         .         .         .       g.77550
 tgaactatttcaaaaatttgctttctctcttgtgcagcgtgggctggcgacaaaatatgc       c.*2700

          .         .         .         .         .         .       g.77610
 actagtagtctcccaagctgcattcggaaggtctccttacaagaccacagaattttagtc       c.*2760

          .         .         .      | 23  .         .         .    g.80020
 cattgctgcttggaaccactggctttacttgaacc | aatagatactttgaatccttctacc    c.*2820

          .         .         .         .         .         .       g.80080
 agatatgtaaaaatttctttctgaaatggattgaaaacagaagactgttcatgatgaata       c.*2880

          .         .         .         .         .         .       g.80140
 ttttcctcagaaatttcggtctggaaaactgaggtcttgctttgagttacattttctgga       c.*2940

          .         .         .     | 24   .         .         .    g.82378
 gttctcaaaatgtcaataatgtctgaattaaatt | cttgataaataatcctgttgactgct    c.*3000

          .         .         .         .         .         .       g.82438
 aaaacagtgagcctctgtagtctctgcgcaagttccgtttcagttgcttggctagggttc       c.*3060

          .         .         .         .         .         .       g.82498
 tcttggctcattctccgttgcatcatcacatgaagctcatcatttgccactgaacgcatt       c.*3120

          .         .         .         .       | 25 .         .    g.87240
 ttcatcagaagcgattcagtttgagcaaggggaaattttcgaggac | cagcaatgcttttc    c.*3180

          .         .         .         .         .         .       g.87300
 cgcttttgaactactgcatgatggggagcagaaggtgactggagtgaatctgtgaggttt       c.*3240

          .         .         .         .         .         .       g.87360
 tcagagtcatgatttgcggtggtccttataaattccatagcagcctggagaactctaagc       c.*3300

          .          | 26        .         .         .         .    g.88062
 tgtagtgcaacagccatat | tttgtgtcctcttgtttttgctattttgaagatatccaagc    c.*3360

          .         .         .         .         .         .       g.88122
 attacaataaggtcttcaataaccctaaaatattgtgagcctgaggaactgcaagcatga       c.*3420

          .         .         .         .         .         .       g.88182
 attgtaactgctatgaaaagttgctgtatatcacaagcaagcaatttatattcactcatg       c.*3480

        | 27 .         .         .         .         .         .    g.89114
 ggaatg | ttcttttctaatccattcagggctgctactgtattacataacacatagagtaga    c.*3540

          .         .         .         .         .         .       g.89174
 ccattatccagcaacatatctgctaccttagaacaagaatttaaaatttggagaagaagt       c.*3600

          .         .         .         .         .         .       g.89234
 aaaagagcattatgcaagagtatgttgtcatatagagaggtctctattagtcccagaata       c.*3660

          .         .         .         .         .        | 28.    g.91497
 ggaatgacagaccacttctgaaacaatcccatgtttctcacatcttccagatcaaat | tct    c.*3720

          .         .         .         .         .         .       g.91557
 tcatcaaggccaatatgtcgaccaaagaacatttcgatgaagcattctaacaattcttga       c.*3780

          .         .         .         .         .         .       g.91617
 gttcctcgatgaagatacaactggttggctagcaaggaaaatccacgattcttcagaaat       c.*3840

          .         .         .         .        | 29.         .    g.93310
 ttatctttttgttccttagatgctctagcaaaatatgcatctaatag | tttaataacacct    c.*3900

          .         .         .         .         .         .       g.93370
 tgttgtatagctggtgatgggtggttaacgaggaccaaaagtgtatctgcttgaataagc       c.*3960

          .         .         .         .         .         .       g.93430
 ttgtccatcacatcttcaagcaaaacatcaggcaggataagaagaaccccacttaggagt       c.*4020

          .         .         .         .      | 30  .         .    g.95003
 tcatataatccacagcatataggtaccaaacagtcttcagttaca | ctgtgagcacttgca    c.*4080

          .         .         .         .         .         .       g.95063
 gttcggttgtaatttggctcataaccaagagaataggcaaagttttcccaatcatcagtg       c.*4140

          .         .         .         .         .         .       g.95123
 tttctatcaacaagacttggccaacggccaacagctgcagatccgttctgtgaaggaaaa       c.*4200

          .         .         .         .         .         .       g.95183
 gctagcccaaggcttgcaatagtgctgtggcttcgctggaaggaggccaatccctttagg       c.*4260

          .         .         .         .         .         .       g.95243
 taatcaggtcggcgtgggcaggactcatccccaggactgtcatcttctgacctgggttct       c.*4320

          .         .         .         .         .         .       g.95303
 gctcccaactgtttatgatctgctttgaccactggaaatcccagcactccctttgggaca       c.*4380

          .         .         .         .         .         .       g.95363
 tcactgacagagacctgggctgagaggacagcttccatttcacaaacagtttttgcagac       c.*4440

          .         .         .         .         .         .       g.95423
 tcacagctactgatgaatgcgtcctctttgccttttttcagtgtgtcggaactccccaaa       c.*4500

          .         .         .         .         .         .       g.95483
 gaattttgtttctttgattgggtggcaacataagtatctgcaatattttgtaacctgtcg       c.*4560

          .         .         .         .         .         .       g.95543
 atactacaacccaaacttccagtcagtttttgtgattgcgttagtagtgaagaagtaggg       c.*4620

          .         .         .         .         .         .       g.95603
 aatgctggtaggcttctagaacgcagcatatgggcggccatctgttgtggaataatatta       c.*4680

          .    | 31    .         .         .         .         .    g.98783
 gaggaattctctc | cttcatatggtgaagcagtaaaaccagatgggcttattaccataaat    c.*4740

          .         .         .         .         .         .       g.98843
 ccagggctcataagggaccttcctccactgctggaatgcctcaggtacatgattgaccgc       c.*4800

          .         .      | 32  .         .         .         .    g.102130
 actttctcctgaaagatcttgccat | ctatgtgcaaagaaaagtagaagttcgtgggattg    c.*4860

          .         .         .         .         .         .       g.102190
 tgacaaacgtaagtattagtaggagggtgaactgctaaaaggaaattgaagataattgtc       c.*4920

          .         .         .         .         .         .       g.102250
 aataattccaaatctggaggagatccaaggacttctgctataattttcacaaatgatcta       c.*4980

          .         .         .         .     | 33   .         .    g.106192
 caaacctctcggggcatgggtgtgagttgcccctctttgtattc | ctgcaaaacctgacaa    c.*5040

          .         .         .         .         .         .       g.106252
 gtcagtagaaagtgatgaaccacttgagctttcaataactgcttaatattaaacatctgc       c.*5100

          .         .         .         .         .         .       g.106312
 tggtggtgatctgctctgatgaggacttctagagctgctagcaaagtttcccaaacacct       c.*5160

    | 34     .         .         .         .         .         .    g.109916
 tg | ctctgctttactccatatcttccagtcaagcaatagttcctctaacagcttaacatct    c.*5220

          .         .         .         .         .         .       g.109976
 tggattatagcattagagtctacatccaacttaaactctccattctcattcatataaata       c.*5280

          .         .         .   | 35     .         .         .    g.110957
 atatcttcaccacagcatccttcaagaagggt | cttcaaaatgtaaaacccaacaatgcat    c.*5340

          .         .         .         .         .         .       g.111017
 ttttgtttgatcaacacctgatgaatcatagaaagtccattacaattttctaattcatgt       c.*5400

          .         .         .         .         .         .       g.111077
 actctttgttggttgtatttaattaatgagagtataactcgcagtgctaatgcttgagtt       c.*5460

          .         .       | 36 .         .         .         .    g.113113
 tcttcacagctactgagttcaacaac | cctggcaaagagaaaaacaaatatgccagttcca    c.*5520

          .         .         .         .         .         .       g.113173
 ccaatttcgtgcagaatgccttgaatagttttatattcagtaggttggagattctttaga       c.*5580

          .         .         .         .         .         .       g.113233
 tgatgaggttctaataagatgctctgaacttcttttgagctgaagggtctttgagagagt       c.*5640

          .         .         .         .         .         .       g.113293
 tgggttttcatttgacctttaagtctaatcactggttcatagatggtatactgagcagga       c.*5700

          .         .         .   | 37     .         .         .    g.116909
 cagtaagttgtataaacaactgaaagactttc | aattaagagaccaatatccacatctttc    c.*5760

          .         .         .         .         .         .       g.116969
 ttggtcataaaaagttctctgatttgttcacatcgcaaaatttctttattaatatatttg       c.*5820

          .         .         .         .         .         .       g.117029
 gagtagtcattgactggcttgccatacttacatggcattacagatgtatggttgggtcca       c.*5880

          .         .         .         .    | 38    .         .    g.117960
 caagcatacagataaaaggcctcttgtgaaccaaccttagctc | cgttgaagagaagcaaa    c.*5940

          .         .         .         .         .         .       g.118020
 tttcccaggtcccattttccagccaactgcaaaaactcttcttgggatgataaacaatgg       c.*6000

          .         .         .         .         .         .       g.118080
 ccaatcatgcaaaatgttttattgctatcagatgacaaacttgtttttcttggaagcata       c.*6060

          .         .     | 39   .         .         .         .    g.123252
 aaatccaaagtaacatcaggcttc | ctctgtccagagacccatatggagattttcccatga    c.*6120

          .         .         .         .         .         .       g.123312
 atcctccttttcccttggggctgctgtaagtaggtgagtactaaatgttgccatttgctt       c.*6180

          .         .         .         .         .         .       g.123372
 gggaggaaaatattctcctgtgattcaacctgtgctagtaaaacagctttcatgtcatca       c.*6240

          .         | 40         .         .         .         .    g.124759
 tttgaatccatgcacaca | cgaaagataagagtggcattgtggggatcagcccacacttgg    c.*6300

          .         .         .         .         .         .       g.124819
 atcatcaacgctttggatcccagtgaaattatatgaatacatccttcttctatgagtctt       c.*6360

          .         .         .         .    | 41    .         .    g.127732
 tcaccaggatttatgtactctgcaccttctggtctgtcgctct | ctgtaccatcaaaactg    c.*6420

          .         .         .         .         .         .       g.127792
 ctatctggtaaaattaatgatttgtttcttttctttatcttctttcctttttctgtagta       c.*6480

          .         .         .         .         .         .       g.127852
 ctctcagcttcatggatacactccacattaaaccacagggaaacactgaaaccttctgat       c.*6540

          .         .         .         .         .         .       g.127912
 aggtgtggccagcagttttgccccagcaacggcaggtggactggggctatgtgccaagat       c.*6600

          .         .         .         .         .         .       g.127972
 gaaagcagccgatggggaaaactctctctatcagcctctttcttgctccgtgaaactcgt       c.*6660

          .         .         .         .         .         .       g.128032
 gctcttctcaataaacccatggccttactgtttaaaatcccaggatacttttgtgatgaa       c.*6720

          .         .         .         .         .         .       g.128092
 acaccgttgcttaaatttggagcgtgcagtaaagggaaggttagatactgtgaagggctc       c.*6780

          .         .         .         .         . | 42       .    g.129529
 atagtagtatcactttcaataattttcagaatacccagaagaagaatttt | tgtacaagga    c.*6840

          .         .         .         .         .         .       g.129589
 gatttctccagaaatattctcaaaagaagggttagctcttctgaacatgttcttgaactc       c.*6900

          .         .         .         . | 43       .         .    g.136356
 atcaaagataccaaaagatccaccaatactctctggcatg | cttgaaaatcagaatcatcc    c.*6960

          .         .         .         .        | 44.         .    g.136900
 tgtgttaaaatactcaagaaccctcctaaaagatttttcacagttcc | ctgttgcatgagc    c.*7020

          .         .         .         .         .         .       g.136960
 agaaaaacattcttttctttctgcctaataattttcaaaaaactctcaaatacatgggca       c.*7080

          .         .         .         .         .         .       g.137020
 agcacatcaagtttggctttactagcagaaagcaaatttaattccagcatacaaatctca       c.*7140

          .         .         .         .         .         .       g.137080
 ggataaattatttccccttgagtgaggttttcgagtaagtcatttggactgcttgatgca       c.*7200

          .         .         .     | 45   .         .         .    g.138950
 ctgaaaccttctgtttcagactttaagtctaccc | catcatcctgggtttcgccatcttca    c.*7260

          .         .         .         .         .         .       g.139010
 ggattgctttcactatctgcttcgtaaccttcttcttcaactaaaagtttaaaactacaa       c.*7320

          .         .         .         .         .         .       g.139070
 cactgagaatcctcagcttcttctgaaaaatcaccaggctgggatgacaattcttctgca       c.*7380

          .  | 46      .         .         .         .         .    g.140569
 gattgatgact | cttctcagtcatagcatcattatgttcaaaatctgctgaataattcccg    c.*7440

          .         .         .         .         .         .       g.140629
 agggcaactcgaagcagggcatcaaataaaggctttgctagttgtgtttcaatcaccttt       c.*7500

          .         .         .         .         .    | 47    .    g.141766
 gactgggaaagatggtccctcatttcaaataatatactttccacagacaagtt | ctgatta    c.*7560

          .         .         .         .         .         .       g.141826
 ggtaactccaattccatcttctgttgactagttctggcaccatgaagacaaatggccaga       c.*7620

          .         .         .         .         .         .       g.141886
 agggcttccaaaagtcgtatactttgaagtgaggtctcactttcttgacttgtaaatagc       c.*7680

          .         .         .         .         .         .       g.141946
 tttgcttcctcgggagcggcttcagtagctgaaacttcttccacatttatggaagaaata       c.*7740

          .         .         .         .         .         .       g.142006
 tgctgtaactctaatttacctaaactgtcagcactcttttttagactacctagttctgat       c.*7800

          .         .         .         .         .         .       g.142066
 ggtatggggtcactttttatagccaaagataataaatcttccttcatagttctcttaggt       c.*7860

          .         .         .         .         .         .       g.142126
 tgagaaattctgtttaaatcctggttttcatttacacttgtatctccctccttttttcct       c.*7920

          .         .         .         .         .         .       g.142186
 tgctcctctttgtgacttctgaacagtttctgtattatcataaatattaacttatggcat       c.*7980

          .         .         .         .         .         .       g.142246
 actcggaaaccaccaagcctataaaactgtttctggaacactgaactcaacatgtagatc       c.*8040

          .         .         .         .         .         .       g.142306
 caacgacacatagaccaaatgtctgctgcttggtgcatatgttcaggagaaggcaagaca       c.*8100

          .         .         .         .         .         .       g.142366
 aggctctcgagagatatacatggcagcatatgacttaaaggctcgctggctgtgctgtca       c.*8160

          .         .         .         .         .         .       g.142426
 tagccagaagtatcttctgagtcattggccgactccctgtcagactctgcttctttactt       c.*8220

          .         .         .         .         .         .       g.142486
 acgcataaaaaagccacacagaggaataggtttattgtgttgatatgaacatcttggtta       c.*8280

          .         .         .         .         .         .       g.142546
 acagtcttccgtctctttggataagcttctttgaggccagcataaaatttgctgagactc       c.*8340

          .         .         .         .         .         .       g.142606
 tgaggagaatctgaataagcttgctgatgatgaaaagaagtacccacatgtacagaggac       c.*8400

          .         .         .         .         .         .       g.142666
 aactccttctgttcaatgtctatcccatcaatatctggaactgaggcatctttctgttgc       c.*8460

          .         .         .         .         .         .       g.142726
 tcccctaggctgattatcagagtttcaaatgcttttagagaatgacttcgaataccattt       c.*8520

          .         .         .         .         .         .       g.142786
 aagcaatttaattcgattatttgacttactccattacaactcaaaaacaaatctcttatt       c.*8580

     | 48    .         .         .         .         .         .    g.144528
 acc | ctggatttaagcaggataggcagagtttttacataaatctgaagcacgtcctgaggc    c.*8640

          .         .         .         .         .         .       g.144588
 aagcactggttatgatggctacatacatgactttgagctgaagtaacgcttaggtgttga       c.*8700

          .         .         .         .         .         .       g.144648
 caatgatgtgctaattcaactcctctttggagcacaggattaaatatgtaattatataat       c.*8760

          .         .         .         .         .         .       g.144708
 ttccactgaacaactatattgcctttctggattaaattgcaaatgtgatttgcaatctgt       c.*8820

          .         .         .         .         .         .       g.144768
 atactatgtaatctgtcttcttcaaaaacaaagttctgataagcctttaaagcatcccat       c.*8880

          .         .         .         .         .         .       g.144828
 ttccacaacaaatcttcagatccactgctgggcaggatcccttgaaatctgtaagaagga       c.*8940

          .         .         .         .         .         .       g.144888
 ctggataaacttgaggagagttcagcatcacataagtttccctgcagtgtctcttctaat       c.*9000

          .         .         .         .         .         .       g.144948
 tgggctagttggtcagagtcaacagtacaaatattacaagctgcttttttaatttttggt       c.*9060

          .         .         .         .         .         .       g.145008
 gatatctctgctcctcctaactgatccaaaataagtttgttaaggatattcaatatatgc       c.*9120

          .         .         .         .         .         .       g.145068
 tgctgaaaatttttcagtgctggcaatttaaaagcatggagcaaaggaatgattacagat       c.*9180

          .         .         .         .         .         .       g.145128
 ttgggatccatacaacagcatattccaatgttatgaacacccgataggatctggacacaa       c.*9240

          .         .         .         .         .         .       g.145188
 gtgctgctcaaggaagcctgctgtagtaagcgcaagcactgatgggcacacactgcaatg       c.*9300

          .         .         .         .         .         .       g.145248
 caacagcaccgctcaggataataaacatctccatctgcagtctcttcaaatgggtttttg       c.*9360

          .         .         .         .         .         .       g.145308
 gaaacctggtttttaaaagccgaaaccagaagacctgagagatctcggtgatgatgcata       c.*9420

          .         .         .         .         .         .       g.145368
 aaatgagaatattcacatcgtctgtgcctttttcttgtacacatcgaatgatgaagttgc       c.*9480

          .         .         .         .         .         .       g.145428
 tctgatttcacttttttgacagtgctcattattttcatcacactatttattagggctttc       c.*9540

          .         .         .         .         .         .       g.145488
 aaatgctctgaggcctcgggaggaactccatctcttaaaaccagccattccatttgaaga       c.*9600

          .         .         .         .         .         .       g.145548
 actgctgtttcaaataaattaaatccatgatgctgaatgaattcttgaaccaaatccatg       c.*9660

          .         .         .         .         .         .       g.145608
 gcttgactgaagtagaagggatttgaagctgcactttgaagacaacagatcagaatctga       c.*9720

          .         .         .         .         .         .       g.145668
 agaactccttccaaaagctcaggtaaaagaagggctctatgacgatactttgaaaacaca       c.*9780

          .         .         .         .         .         .       g.145728
 aaatcttcctgaacctcctgcagtgttttcttttgtcttggtgcaaaagggtcaggctgc       c.*9840

          .         .         .         .         .         .       g.145788
 ttttctaggcatattctaatttttaaagctgctctaagcaattcagttaaatttttccta       c.*9900

          .         .         .         .         .         .       g.145848
 agattttctggcatcatctctgcagtactaacatctactgacagaagatgcaacactgtt       c.*9960

          .         .         .         .         .         .       g.145908
 cgaaagagcatcctttgaatcaaagccaccggttcttcggtccaacctgcagaaactact       c.*10020

          .         .         .         .         .         .       g.145968
 cgactctccaagttgtcgctcagactgcagcagtccccaaagcctgctaggaattcagtt       c.*10080

          .         .         .         .         .         .       g.146028
 agtgtgggcactacactggctgctaaaggagaattatgattcaaggtaacgtcaaactta       c.*10140

          .         .         .         .         .         .       g.146088
 caaactttttctaataaagataacaaaacatgacataagtcaaatggagaattgttcatg       c.*10200

          .         .         .         .         .         .       g.146148
 ttactgataacagacaaggcagctggctcacttaaaatgtcagtgtttgacccctgtctt       c.*10260

          .         .         .         .         .         .       g.146208
 ggaataatctctctggaattttccaaagccatagcatctggaggagtctgttctttggtt       c.*10320

          .         .         .         .         .         .       g.146268
 gctaagcggtcaagtttagctttggggtggtcttgtttaggaaacgatgttaaaaaatga       c.*10380

          .         .         .         .         .         .       g.146328
 tgcagcagatggggccttctatgcttattcattgctatgcctttttcatctgaattggct       c.*10440

          .         .         .         .         .         .       g.146388
 tctgaatctgaggtggagagctgtgtctttcttgcatctcttacagaatagcgatgggta       c.*10500

          .         .         .         .         .         .       g.146448
 attttacgctgtcgtctgctttttcgaaaaacatttacttttgcagaaacctgactagac       c.*10560

          .         .         .         .         .         .       g.146508
 agggcacttccttctaaatgtaatttttcctgagtggatctttgtgaacttgagttcttt       c.*10620

          .         .         .         .    | 49    .         .    g.149004
 tctttggtcaggattatatctgctgagagcggtaggttaaaat | ctgttgccttttcttct    c.*10680

          .         .         .         .         .         .       g.149064
 tggacaggtatcttccataccagtggaaggagagacagaagaagagtcaggagttcttct       c.*10740

          .     | 50   .         .         .         .         .    g.166288
 ctacatgtcaatgc | ctgatcaattatagaatttagcttggtaagtaatagaaatcctcga    c.*10800

          .         .         .         .         .         .       g.166348
 ccatggacaaggtactgtccaagggttgccatgtgcgtctcctcctcttcttcctccctg       c.*10860

          .         .         .         .         .         .       g.166408
 gcctccaccctctggaccactgcattgcaaagccggttgacatcggtcagaaattcacgt       c.*10920

          .         .         .    | 51    .         .         .    g.169621
 gccagtgagttactgtcggtgctcatgaccgag | cagtctttcaccactgctgtgacattt    c.*10980

          .         .         .         .         .         .       g.169681
 acagtctatatcatttggactcataaactagatgaaacaaatattcttagaacaaagctt       c.*11040

     | 52    .         .         .         .         .         .    g.202916
 cac | ctggtttgtggcagctgcggccgccgcgcactccccctctcccggagaaccccgagc    c.*11100

          .         .  | 53      .         .         .         .                                          g.202976
 cgacgccgctgccgccgccgc | a                                          c.*11122

 (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 Lysosomal trafficking regulator 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.