Glycosyltransferase-like domain containing 2 (GTDC2) - coding DNA reference sequence

(used for mutation description)

(last modified September 14, 2012)


This file was created to facilitate the description of sequence variants in the GTDC2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032930.1, covering GTDC2 transcript NM_032806.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5053
        aggcgcacaggctccgcgccgggctcgcccgccgggcaggcgcacggcggaca       c.-301

 .         .         .         .         .         .                g.5113
 cctgcgagcctggaggtggcggtcgctgcgaacccggcggcgcggccaaacctgtgctgg       c.-241

 .         .         .         .         .         .                g.5173
 ctgcctgggccttctgggcctcctgggccagaagctggcgctgggggcggcggcggggtg       c.-181

 .         .         .         .         .         .                g.5233
 ggaaagcggcgccgccgtggggcctcctggacgcgtcggcggaggtggcttcgtcccgcg       c.-121

 .         .     | 02   .         .         .         .             g.29592
 gagtccaggcttcag | gctttcaccagttctcaggatgcccatagggatgggtgaagcctg    c.-61

 .         .         .         .         .         .                g.29652
 cctggcctgtggtgcttcccagtggccgtcatctcattagggccccacagtggcattagg       c.-1

          .         .         .         .         .         .       g.29712
 ATGCACCTCTCGGCGGTGTTCAACGCCCTCCTGGTGTCGGTGCTGGCAGCGGTCCTGTGG       c.60
 M  H  L  S  A  V  F  N  A  L  L  V  S  V  L  A  A  V  L  W         p.20

          .         .         .         .         .         .       g.29772
 AAGCATGTGCGGCTGCGTGAGCATGCAGCCACACTGGAGGAGGAGCTGGCCCTCAGCCGA       c.120
 K  H  V  R  L  R  E  H  A  A  T  L  E  E  E  L  A  L  S  R         p.40

          .         .         .         .         .         .       g.29832
 CAGGCCACAGAGCCAGCCCCAGCACTGAGGATCGACTACCCGAAGGCACTGCAGATCCTG       c.180
 Q  A  T  E  P  A  P  A  L  R  I  D  Y  P  K  A  L  Q  I  L         p.60

          .         .         .         .         .         .       g.29892
 ATGGAGGGCGGCACACACATGGTGTGCACGGGCCGCACGCACACAGACCGCATCTGCCGC       c.240
 M  E  G  G  T  H  M  V  C  T  G  R  T  H  T  D  R  I  C  R         p.80

          .         .         .         .         .         .       g.29952
 TTCAAGTGGCTCTGCTACTCCAACGAGGCTGAGGAGTTCATCTTCTTCCATGGCAACACC       c.300
 F  K  W  L  C  Y  S  N  E  A  E  E  F  I  F  F  H  G  N  T         p.100

          .         .         .         .         .         .       g.30012
 TCTGTCATGCTGCCCAACCTGGGCTCCCGGCGCTTCCAGCCAGCCCTGCTCGACCTATCC       c.360
 S  V  M  L  P  N  L  G  S  R  R  F  Q  P  A  L  L  D  L  S         p.120

          .         .         .         .         .         .       g.30072
 ACCGTGGAGGACCACAACACTCAGTACTTCAACTTCGTGGAGCTGCCTGCTGCTGCCCTG       c.420
 T  V  E  D  H  N  T  Q  Y  F  N  F  V  E  L  P  A  A  A  L         p.140

          .         .         .         .         .         .       g.30132
 CGCTTCATGCCCAAGCCGGTGTTCGTGCCAGACGTGGCCCTCATCGCCAACCGCTTCAAC       c.480
 R  F  M  P  K  P  V  F  V  P  D  V  A  L  I  A  N  R  F  N         p.160

          .         .         .         .         .         .       g.30192
 CCCGACAACCTCATGCACGTCTTTCATGACGACCTGCTGCCACTCTTCTACACCCTGCGG       c.540
 P  D  N  L  M  H  V  F  H  D  D  L  L  P  L  F  Y  T  L  R         p.180

          .         .         .         .         .         .       g.30252
 CAGTTTCCCGGCCTGGCCCACGAGGCACGGCTCTTCTTCATGGAGGGCTGGGGCGAGGGT       c.600
 Q  F  P  G  L  A  H  E  A  R  L  F  F  M  E  G  W  G  E  G         p.200

          .         .         .         .         .         .       g.30312
 GCACACTTCGACCTCTACAAGCTGCTCAGCCCCAAGCAGCCTCTCCTGCGGGCACAGCTG       c.660
 A  H  F  D  L  Y  K  L  L  S  P  K  Q  P  L  L  R  A  Q  L         p.220

          .         .         .         .         .         .       g.30372
 AAGACCCTGGGCCGGCTGCTGTGCTTCTCCCATGCTTTTGTGGGCCTCTCCAAGATCACT       c.720
 K  T  L  G  R  L  L  C  F  S  H  A  F  V  G  L  S  K  I  T         p.240

          .         .         .         .         .         .       g.30432
 ACCTGGTACCAGTATGGCTTTGTGCAGCCCCAGGGCCCGAAGGCCAACATCCTCGTCTCA       c.780
 T  W  Y  Q  Y  G  F  V  Q  P  Q  G  P  K  A  N  I  L  V  S         p.260

          .         .         .         .         .         .       g.30492
 GGCAATGAGATCCGGCAGTTTGCACGGTTCATGACAGAAAAGCTGAACGTGAGCCACACA       c.840
 G  N  E  I  R  Q  F  A  R  F  M  T  E  K  L  N  V  S  H  T         p.280

          .         .         .         .         .         .       g.30552
 GGAGTCCCCCTAGGCGAGGAGTACATTCTGGTCTTTAGCCGAACCCAGAACAGACTCATT       c.900
 G  V  P  L  G  E  E  Y  I  L  V  F  S  R  T  Q  N  R  L  I         p.300

          .         .         .         .         .         .       g.30612
 CTGAATGAGGCAGAGCTGCTGCTGGCACTGGCCCAGGAGTTCCAGATGAAGACAGTGACA       c.960
 L  N  E  A  E  L  L  L  A  L  A  Q  E  F  Q  M  K  T  V  T         p.320

          .         .         .         .         .         .       g.30672
 GTGTCCCTGGAGGACCACACCTTTGCTGATGTCGTGCGGCTGGTCAGCAATGCCTCCATG       c.1020
 V  S  L  E  D  H  T  F  A  D  V  V  R  L  V  S  N  A  S  M         p.340

          .         .         .         .         .         .       g.30732
 CTGGTCAGCATGCATGGGGCCCAGCTGGTCACCACCCTCTTCCTGCCCCGTGGGGCAACT       c.1080
 L  V  S  M  H  G  A  Q  L  V  T  T  L  F  L  P  R  G  A  T         p.360

          .         .         .         .         .         .       g.30792
 GTGGTAGAGCTCTTCCCATATGCTGTCAATCCCGACCACTACACTCCCTATAAGACGCTG       c.1140
 V  V  E  L  F  P  Y  A  V  N  P  D  H  Y  T  P  Y  K  T  L         p.380

          .         .         .         .         .         .       g.30852
 GCCATGCTGCCTGGCATGGACCTCCAGTATGTAGCCTGGCGGAACATGATGCCAGAGAAC       c.1200
 A  M  L  P  G  M  D  L  Q  Y  V  A  W  R  N  M  M  P  E  N         p.400

          .         .         .         .         .         .       g.30912
 ACAGTCACACACCCTGAGCGGCCCTGGGATCAGGGGGGCATCACCCATCTGGACCGGGCT       c.1260
 T  V  T  H  P  E  R  P  W  D  Q  G  G  I  T  H  L  D  R  A         p.420

          .         .         .         .         .         .       g.30972
 GAGCAAGCCCGTATCCTGCAAAGCCGTGAGGTCCCACGGCATCTCTGTTGCCGGAACCCC       c.1320
 E  Q  A  R  I  L  Q  S  R  E  V  P  R  H  L  C  C  R  N  P         p.440

          .         .         .         .         .         .       g.31032
 GAGTGGCTCTTCCGAATCTACCAGGACACCAAGGTGGACATCCCGTCCCTCATTCAAACC       c.1380
 E  W  L  F  R  I  Y  Q  D  T  K  V  D  I  P  S  L  I  Q  T         p.460

          .         .         .         .         .         .       g.31092
 ATACGGCGCGTGGTGAAGGGCCGGCCAGGACCACGGAAGCAGAAGTGGACAGTCGGCCTA       c.1440
 I  R  R  V  V  K  G  R  P  G  P  R  K  Q  K  W  T  V  G  L         p.480

          .         .         .         .         .         .       g.31152
 TATCCAGGCAAGGTGCGGGAGGCACGGTGCCAGGCGTCAGTGCATGGCGCCTCCGAGGCC       c.1500
 Y  P  G  K  V  R  E  A  R  C  Q  A  S  V  H  G  A  S  E  A         p.500

          .         .         .         .         .         .       g.31212
 CGCCTCACTGTCTCCTGGCAGATCCCATGGAACCTTAAATACCTGAAGGTGAGGGAGGTG       c.1560
 R  L  T  V  S  W  Q  I  P  W  N  L  K  Y  L  K  V  R  E  V         p.520

          .         .         .         .         .         .       g.31272
 AAGTACGAGGTGTGGCTGCAGGAGCAGGGGGAGAACACCTACGTGCCTTACATCCTGGCT       c.1620
 K  Y  E  V  W  L  Q  E  Q  G  E  N  T  Y  V  P  Y  I  L  A         p.540

          .         .         .         .         .         .       g.31332
 CTGCAGAACCACACCTTCACTGAGAACATCAAGCCCTTCACCACCTACCTGGTGTGGGTC       c.1680
 L  Q  N  H  T  F  T  E  N  I  K  P  F  T  T  Y  L  V  W  V         p.560

          .         .         .         .         .         .       g.31392
 CGCTGCATCTTCAACAAGATCCTCCTGGGACCCTTTGCAGATGTGCTGGTGTGCAACACG       c.1740
 R  C  I  F  N  K  I  L  L  G  P  F  A  D  V  L  V  C  N  T         p.580

                                                                    g.31395
 TAG                                                                c.1743
 X                                                                  p.580

          .         .         .         .         .         .       g.31455
 cgagcaggccacagcctggcctcgggaaggtggctcctgcagttcagcgtccctgggccc       c.*60

          .         .         .         .         .         .       g.31515
 attaatcccactgtggagacttctgggaactatttattgagcaggcctgtgcctccacat       c.*120

          .         .         .         .         .         .       g.31575
 catcttgttgtctctggggtgtggtgtcacagcactcctctttgccctagagataaggga       c.*180

          .         .         .         .         .         .       g.31635
 cctgacttccccttctcccatcctgaacatttgtacccctggagaagttccttagcaggg       c.*240

          .         .         .         .         .         .       g.31695
 aggaggaagaggagaggaggaagcaaagaatcacaaggaacctctggctaggtgatcctg       c.*300

          .         .         .         .         .         .       g.31755
 atgtttcctactgagtttttctggtatccagatttctggaaaccgagtaatcatgtactg       c.*360

          .         .         .         .         .         .       g.31815
 tttgattgggtggttcatctgcttccatcccagtgaaatttacctgtagcccagtgaagg       c.*420

          .         .         .         .                           g.31855
 gtgtgtttggaacattcattaaatgattctaagcatcttg                           c.*460

 (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 Glycosyltransferase-like domain containing 2 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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