LARGE like-glycosyltransferase (LARGE) - coding DNA reference sequence

(used for mutation description)

(last modified November 26, 2010)


This file was created to facilitate the description of sequence variants in the LARGE gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_009929.1, covering LARGE transcript variant 1 (NM_004737.4). Transcript variant 2 (NM_133642.3) skips exon 2. 

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5039
                      gggggcgcggccgcgctcgtctcgccgggctgttcgcgg       c.-541

 .         .         .         .         .         .                g.5099
 gcaggccctgccctgaagggacgaatcggcttggagcgcgggaggtggagtcggccccgg       c.-481

 .         .         .         .         .         .                g.5159
 cggtcgctccctggacccaacccgaggctgacccaggcccctgcccatgcggggcgcccc       c.-421

 .         .         .         .         .         .                g.5219
 tggctcggaagagtcccccgggccgggagcagctccaggcagcggccccggaggaagagg       c.-361

 .         .         .         .         .         .                g.5279
 aagaagggacagtgctcagcttgggggacccggaccctcgccgcggcatttggagccggg       c.-301

 .         .         .         .         .         .                g.5339
 ggcagtcccgaactctgtgcttggcaccgccgctccgagtagggcagcgcctgccgggac       c.-241

 .         .         .         .         .         .                g.5399
 cctgacccggaccccctgcgcctcgtaggcggcggcgccgccgcgccaccctgttcttcc       c.-181

 .         .         .         .     | 02   .         .             g.68651
 gtgtctccctctgcctggcggcagtcacggccaag | aacctacattaagaaacgcattcag    c.-121
                                     ^  alternatively spliced exon

 .         .         .         .        | 03.         .             g.163893
 atgcatcagccgtttgtaaagcacctgtcgtgagccag | agagtattatgagggaggccga    c.-61

 .         .         .         .         .         .                g.163953
 ggacttcatgctccggacagagaaacggcgctgggattagggattgccacttctgagagg       c.-1

          .         .         .         .         .         .       g.164013
 ATGCTGGGAATCTGCAGGGGGAGACGGAAATTCTTGGCTGCCTCGTTGAGTCTTCTCTGC       c.60
 M  L  G  I  C  R  G  R  R  K  F  L  A  A  S  L  S  L  L  C         p.20

          .         .         .         .       | 04 .         .    g.274776
 ATCCCAGCCATCACCTGGATTTACCTGTTTTCTGGGAGCTTCGAAG | ATGGAAAGCCCGTG    c.120
 I  P  A  I  T  W  I  Y  L  F  S  G  S  F  E  D |   G  K  P  V      p.40

          .         .         .         .         .         .       g.274836
 TCTCTGTCACCGCTGGAGTCCCAGGCACACAGCCCCAGGTACACGGCCTCCAGCCAGCGG       c.180
 S  L  S  P  L  E  S  Q  A  H  S  P  R  Y  T  A  S  S  Q  R         p.60

          .         .         .         .         .         .       g.274896
 GAGCGCGAGAGCCTGGAGGTGCGCATGCGCGAGGTGGAGGAGGAGAACCGCGCCCTCCGC       c.240
 E  R  E  S  L  E  V  R  M  R  E  V  E  E  E  N  R  A  L  R         p.80

          .         .         .         .         .         .       g.274956
 AGGCAGCTCAGCCTGGCCCAGGGCCGAGCCCCATCCCATCGCCGAGGCAACCACTCCAAG       c.300
 R  Q  L  S  L  A  Q  G  R  A  P  S  H  R  R  G  N  H  S  K         p.100

          .         .         .         .         .         .       g.275016
 ACCTACTCCATGGAGGAGGGCACTGGAGACAGCGAGAACCTTCGGGCTGGCATCGTGGCA       c.360
 T  Y  S  M  E  E  G  T  G  D  S  E  N  L  R  A  G  I  V  A         p.120

          .         .         .         .         | 05         .    g.299118
 GGCAACAGCTCCGAGTGTGGGCAGCAGCCGGTCGTGGAGAAATGCGAG | ACAATCCACGTT    c.420
 G  N  S  S  E  C  G  Q  Q  P  V  V  E  K  C  E   | T  I  H  V      p.140

          .         .         .         .         .         .       g.299178
 GCTATTGTCTGCGCCGGATACAATGCCAGCCGGGATGTCGTCACCCTGGTCAAATCCGTC       c.480
 A  I  V  C  A  G  Y  N  A  S  R  D  V  V  T  L  V  K  S  V         p.160

          .  | 06      .         .         .         .         .    g.320921
 CTGTTCCATAG | ACGGAACCCTCTGCACTTCCACCTTATTGCTGACTCCATTGCGGAGCAG    c.540
 L  F  H  R  |  R  N  P  L  H  F  H  L  I  A  D  S  I  A  E  Q      p.180

          .         .         .         .         .         .       g.320981
 ATCCTGGCCACGCTCTTCCAGACCTGGATGGTGCCCGCTGTGCGTGTGGACTTCTACAAT       c.600
 I  L  A  T  L  F  Q  T  W  M  V  P  A  V  R  V  D  F  Y  N         p.200

          .      | 07  .         .         .         .         .    g.360456
 GCAGACGAGCTCAAG | TCTGAAGTTTCCTGGATCCCCAATAAACATTACTCTGGGATTTAT    c.660
 A  D  E  L  K   | S  E  V  S  W  I  P  N  K  H  Y  S  G  I  Y      p.220

          .         .         .         .         .         .       g.360516
 GGTCTGATGAAGCTTGTCCTGACCAAGACTCTTCCTGCCAACCTGGAGAGAGTCATCGTC       c.720
 G  L  M  K  L  V  L  T  K  T  L  P  A  N  L  E  R  V  I  V         p.240

          .         .         .         .         .         .       g.360576
 CTTGACACGGATATCACCTTTGCCACTGACATTGCAGAGCTGTGGGCTGTGTTCCACAAG       c.780
 L  D  T  D  I  T  F  A  T  D  I  A  E  L  W  A  V  F  H  K         p.260

         | 08.         .         .         .         .         .    g.493218
 TTCAAAG | GTCAGCAAGTCCTGGGCTTGGTGGAGAACCAGAGTGACTGGTACCTTGGAAAC    c.840
 F  K  G |   Q  Q  V  L  G  L  V  E  N  Q  S  D  W  Y  L  G  N      p.280

          .         .         .         .         .   | 09     .    g.541134
 CTGTGGAAAAATCACCGCCCATGGCCAGCCCTTGGAAGAGGCTACAACACAG | GGGTGATC    c.900
 L  W  K  N  H  R  P  W  P  A  L  G  R  G  Y  N  T  G |   V  I      p.300

          .         .         .         .         .         .       g.541194
 CTGTTACTTCTGGATAAGCTGCGGAAGATGAAATGGGAGCAGATGTGGAGGCTGACCGCA       c.960
 L  L  L  L  D  K  L  R  K  M  K  W  E  Q  M  W  R  L  T  A         p.320

          .         .         .         .      | 10  .         .    g.543401
 GAGAGGGAGCTCATGGGCATGCTCTCTACATCCTTAGCTGACCAG | GATATTTTCAATGCC    c.1020
 E  R  E  L  M  G  M  L  S  T  S  L  A  D  Q   | D  I  F  N  A      p.340

          .         .         .         .         .         .       g.543461
 GTCATCAAACAAAACCCCTTCCTTGTGTACCAGCTCCCCTGCTTCTGGAATGTGCAGCTG       c.1080
 V  I  K  Q  N  P  F  L  V  Y  Q  L  P  C  F  W  N  V  Q  L         p.360

          .         .         .         .         .  | 11      .    g.587638
 TCAGACCACACCCGCTCCGAGCAGTGCTACAGAGACGTGTCTGATCTAAAG | GTCATTCAC    c.1140
 S  D  H  T  R  S  E  Q  C  Y  R  D  V  S  D  L  K   | V  I  H      p.380

          .         .         .         .         .         .       g.587698
 TGGAACTCCCCCAAGAAGCTCCGGGTGAAGAACAAGCATGTGGAGTTTTTTCGCAACCTC       c.1200
 W  N  S  P  K  K  L  R  V  K  N  K  H  V  E  F  F  R  N  L         p.400

          .         .         .         .         .         .       g.587758
 TACCTGACCTTCCTGGAGTATGACGGCAATCTTCTGAGGCGGGAACTGTTTGGCTGCCCC       c.1260
 Y  L  T  F  L  E  Y  D  G  N  L  L  R  R  E  L  F  G  C  P         p.420

          .         .        | 12.         .         .         .    g.609215
 AGTGAGGCTGATGTCAACAGTGAAAAC | CTCCAGAAGCAGCTGTCTGAGCTGGACGAGGAC    c.1320
 S  E  A  D  V  N  S  E  N   | L  Q  K  Q  L  S  E  L  D  E  D      p.440

          .         .         .         .         .         .       g.609275
 GACCTGTGCTATGAGTTCCGGCGAGAGCGCTTCACTGTCCACCGCACCCACCTGTACTTC       c.1380
 D  L  C  Y  E  F  R  R  E  R  F  T  V  H  R  T  H  L  Y  F         p.460

          .         .         .         .         .         .       g.609335
 CTGCACTACGAGTATGAGCCTGCAGCAGACAGCACGGACGTCACCCTGGTCGCTCAGCTG       c.1440
 L  H  Y  E  Y  E  P  A  A  D  S  T  D  V  T  L  V  A  Q  L         p.480

          .  | 13      .         .         .         .         .    g.620972
 TCCATGGACAG | GCTCCAGATGCTGGAGGCCATCTGCAAGCACTGGGAGGGGCCCATCAGC    c.1500
 S  M  D  R  |  L  Q  M  L  E  A  I  C  K  H  W  E  G  P  I  S      p.500

          .         .         .         .         .         .       g.621032
 CTGGCCCTCTACCTGTCAGACGCCGAGGCCCAGCAGTTCCTCCGCTACGCACAGGGCTCT       c.1560
 L  A  L  Y  L  S  D  A  E  A  Q  Q  F  L  R  Y  A  Q  G  S         p.520

          .         .         .         .         .         .       g.621092
 GAGGTGCTTATGAGCCGCCACAACGTGGGCTACCACATCGTGTACAAGGAGGGCCAGTTC       c.1620
 E  V  L  M  S  R  H  N  V  G  Y  H  I  V  Y  K  E  G  Q  F         p.540

          .         .         .         .         .         .       g.621152
 TACCCCGTGAACCTGCTGCGCAACGTGGCCATGAAGCACATCAGCACTCCCTACATGTTC       c.1680
 Y  P  V  N  L  L  R  N  V  A  M  K  H  I  S  T  P  Y  M  F         p.560

          .         .         .         .         . | 14       .    g.642092
 CTGTCTGACATTGACTTCCTGCCCATGTATGGGCTCTATGAGTACCTCAG | GAAGTCTGTC    c.1740
 L  S  D  I  D  F  L  P  M  Y  G  L  Y  E  Y  L  R  |  K  S  V      p.580

          .         .         .         .         .         .       g.642152
 ATCCAGCTCGATCTTGCCAACACCAAGAAAGCAATGATTGTCCCCGCGTTCGAGACACTG       c.1800
 I  Q  L  D  L  A  N  T  K  K  A  M  I  V  P  A  F  E  T  L         p.600

          .         .         .         .         .         .       g.642212
 CGCTACCGGCTGTCCTTCCCCAAGTCAAAAGCGGAGTTGCTGTCAATGCTGGACATGGGG       c.1860
 R  Y  R  L  S  F  P  K  S  K  A  E  L  L  S  M  L  D  M  G         p.620

          .        | 15.         .         .         .         .    g.648218
 ACCCTCTTCACATTCAG | GTACCACGTCTGGACGAAAGGCCACGCACCCACAAACTTCGCC    c.1920
 T  L  F  T  F  R  |  Y  H  V  W  T  K  G  H  A  P  T  N  F  A      p.640

          .         .         .         .         .         .       g.648278
 AAGTGGCGGACCGCCACCACGCCTTACCGGGTTGAGTGGGAGGCCGATTTTGAGCCGTAT       c.1980
 K  W  R  T  A  T  T  P  Y  R  V  E  W  E  A  D  F  E  P  Y         p.660

          .         .         .         .         .         .       g.648338
 GTTGTTGTGAGACGTGACTGCCCGGAGTACGACCGGAGGTTTGTAGGCTTTGGCTGGAAC       c.2040
 V  V  V  R  R  D  C  P  E  Y  D  R  R  F  V  G  F  G  W  N         p.680

          .         .         .    | 16    .         .         .    g.650833
 AAAGTGGCTCATATCATGGAGCTGGATGTGCAG | GAGTATGAGTTCATTGTGCTGCCCAAC    c.2100
 K  V  A  H  I  M  E  L  D  V  Q   | E  Y  E  F  I  V  L  P  N      p.700

          .         .         .         .         .         .       g.650893
 GCCTACATGATCCACATGCCTCATGCCCCCAGCTTCGACATTACCAAGTTCCGTTCCAAC       c.2160
 A  Y  M  I  H  M  P  H  A  P  S  F  D  I  T  K  F  R  S  N         p.720

          .         .         .         .         .         .       g.650953
 AAGCAATACCGCATCTGTCTCAAAACCCTCAAGGAAGAGTTTCAGCAGGACATGTCCCGC       c.2220
 K  Q  Y  R  I  C  L  K  T  L  K  E  E  F  Q  Q  D  M  S  R         p.740

          .         .         .         .         .                 g.651004
 CGCTACGGCTTTGCTGCCCTGAAATATCTCACAGCCGAGAACAACAGCTAG                c.2271
 R  Y  G  F  A  A  L  K  Y  L  T  A  E  N  N  S  X                  p.756

          .         .         .         .         .         .       g.651064
 caccaagaagcccaccactagggggagacatgctgtaggggaagtgccactcgctgtttg       c.*60

          .         .         .         .         .         .       g.651124
 gggcccggccttcaaattcaaaattgagccatgctttttcggtttgtttttatttatctc       c.*120

          .         .         .         .         .         .       g.651184
 tttggcccagccaagctgccctcactacagagaccttggacaaggatccagccagtccct       c.*180

          .         .         .         .         .         .       g.651244
 ctctgccccacaaccctgcattcccagaggttagctatgcagcccacctagatgagtctc       c.*240

          .         .         .         .         .         .       g.651304
 ttcaagaatgggaaatcaaggggtgacagggagtaaaagggttatcatcttactgcaaag       c.*300

          .         .         .         .         .         .       g.651364
 ccacaagatcagggcagggctttaggatgttctggatgctttttaataattatgcttccc       c.*360

          .         .         .         .         .         .       g.651424
 atcataactggggagaaagggaagtcagggttctaggggttattcgtcccaggaaataga       c.*420

          .         .         .         .         .         .       g.651484
 agtgaaattgtctttattaagtgaaaactttcccctttgccctgcaatgtagctgggcat       c.*480

          .         .         .         .         .         .       g.651544
 tcaaacggagggcaaaccgatgatctaaaccaaccacttggaaaaacccaatggggacat       c.*540

          .         .         .         .         .         .       g.651604
 tgtaaccagagggtcctggaggtggggttgatgggtttccttatccccaaagtcactcct       c.*600

          .         .         .         .         .         .       g.651664
 gttttgttttgtttttctttgggggttttgtttatttttggggctggcaatccaaaatag       c.*660

          .         .         .         .         .         .       g.651724
 aaaatctgatcctttgaggctctaaaggaaaatcagctgcctctaccaaccaccctctat       c.*720

          .         .         .         .         .         .       g.651784
 cagcagtggcccaggaaggaggtcaagcatcttcggccgatatttaaacatgggcagctt       c.*780

          .         .         .         .         .         .       g.651844
 ccttcaggatgatcaccgaggctcccgtgactttgaactccctactctccagaatccagg       c.*840

          .         .         .         .         .         .       g.651904
 ggctatagcgatggggactgcggaattacgagggctggctgttttacaccggtcacattt       c.*900

          .         .         .         .         .         .       g.651964
 tctattggcagtgactgattcatgggaaagggctttgaaggaactacttcagtgcacaca       c.*960

          .         .         .         .         .         .       g.652024
 caaggtacgaacctctcaggcctttcgaagaactttcataattcatgaaagcccagttct       c.*1020

          .         .         .         .         .         .       g.652084
 gaagattcacgtatccatctggagacctacaggaagaaagtgattgggttcctctggttc       c.*1080

          .         .         .         .         .         .       g.652144
 ttgcctgcttcactgtggatgggaagaggtgacaacctcagtctccctttgggacctgtc       c.*1140

          .         .         .         .         .         .       g.652204
 caagggtaggcaaccaccttcaccttcacacagattgaggagacactggactttttaccc       c.*1200

          .         .         .         .         .         .       g.652264
 attttctttaatcttcaatattaatattgtgtttacattgatgagaacaagagttaatgc       c.*1260

          .         .         .         .         .         .       g.652324
 cctaccctctgctgggctgtttgtattgagttgcaatgtgaccagcgaaagctgcattta       c.*1320

          .         .         .                                     g.652355
 ataaatgaaagtacagactgtttcttcccca                                    c.*1351

 (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 LARGE like-glycosyltransferase 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 mutations, 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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