pancreas specific transcription factor, 1a (PTF1A) - coding DNA reference sequence

(used for variant description)

(last modified October 28, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_178161.2 in the PTF1A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009798.1, covering PTF1A transcript NM_178161.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGACGCGGTGTTGCTGGAGCACTTCCCCGGGGGCCTAGACGCCTTTCCTTCTTCGTAC       c.60
 M  D  A  V  L  L  E  H  F  P  G  G  L  D  A  F  P  S  S  Y         p.20

          .         .         .         .         .         .       g.120
 TTCGACGAGGACGACTTCTTCACCGACCAGTCTTCACGGGACCCCCTGGAGGACGGCGAT       c.120
 F  D  E  D  D  F  F  T  D  Q  S  S  R  D  P  L  E  D  G  D         p.40

          .         .         .         .         .         .       g.180
 GAGCTGCTGGCGGACGAGCAGGCCGAGGTGGAGTTCCTTAGCCACCAGCTCCACGAGTAC       c.180
 E  L  L  A  D  E  Q  A  E  V  E  F  L  S  H  Q  L  H  E  Y         p.60

          .         .         .         .         .         .       g.240
 TGCTACCGCGACGGGGCGTGCCTGCTGCTGCAGCCCGCGCCCCCGGCCGCCCCGCTAGCG       c.240
 C  Y  R  D  G  A  C  L  L  L  Q  P  A  P  P  A  A  P  L  A         p.80

          .         .         .         .         .         .       g.300
 CTCGCCCCGCCGTCCTCGGGGGGCCTCGGTGAGCCAGACGACGGCGGCGGCGGCGGCTAC       c.300
 L  A  P  P  S  S  G  G  L  G  E  P  D  D  G  G  G  G  G  Y         p.100

          .         .         .         .         .         .       g.360
 TGCTGCGAGACGGGGGCGCCCCCAGGCGGCTTCCCCTACTCGCCCGGCTCGCCGCCCTCG       c.360
 C  C  E  T  G  A  P  P  G  G  F  P  Y  S  P  G  S  P  P  S         p.120

          .         .         .         .         .         .       g.420
 TGCCTGGCCTACCCGTGCGCCGGGGCGGCAGTACTGTCTCCCGGGGCGCGGCTGCGCGGC       c.420
 C  L  A  Y  P  C  A  G  A  A  V  L  S  P  G  A  R  L  R  G         p.140

          .         .         .         .         .         .       g.480
 CTGAGCGGAGCGGCGGCTGCGGCGGCGCGGCGCCGGCGGCGGGTGCGCTCCGAGGCGGAG       c.480
 L  S  G  A  A  A  A  A  A  R  R  R  R  R  V  R  S  E  A  E         p.160

          .         .         .         .         .         .       g.540
 CTGCAGCAGCTGCGGCAGGCGGCCAACGTGCGCGAGCGGCGGCGCATGCAGTCCATCAAC       c.540
 L  Q  Q  L  R  Q  A  A  N  V  R  E  R  R  R  M  Q  S  I  N         p.180

          .         .         .         .         .         .       g.600
 GACGCCTTCGAGGGGCTGCGCTCGCACATCCCCACGCTGCCCTACGAGAAGCGCCTCTCC       c.600
 D  A  F  E  G  L  R  S  H  I  P  T  L  P  Y  E  K  R  L  S         p.200

          .         .         .         .         .         .       g.660
 AAGGTGGACACGCTGCGCCTGGCCATCGGCTACATCAACTTCCTCAGCGAGCTCGTGCAG       c.660
 K  V  D  T  L  R  L  A  I  G  Y  I  N  F  L  S  E  L  V  Q         p.220

          .         .         .         .         .         .       g.720
 GCCGACCTGCCCTTGCGCGGCGGTGGCGCGGGCGGCTGCGGGGGGCCGGGCGGCGGCGGG       c.720
 A  D  L  P  L  R  G  G  G  A  G  G  C  G  G  P  G  G  G  G         p.240

          .         .         .         .         .         .       g.780
 CGCCTGGGCGGGGACAGCCCGGGCAGCCAGGCCCAGAAGGTCATCATCTGCCATCGGGGC       c.780
 R  L  G  G  D  S  P  G  S  Q  A  Q  K  V  I  I  C  H  R  G         p.260

      | 02   .         .         .         .         .         .    g.1229
 ACCC | GGTCCCCCTCCCCCAGCGACCCTGATTATGGCCTCCCTCCCCTAGCAGGACACTCT    c.840
 T  R |   S  P  S  P  S  D  P  D  Y  G  L  P  P  L  A  G  H  S      p.280

          .         .         .         .         .         .       g.1289
 CTCTCATGGACTGATGAAAAACAACTCAAGGAACAAAATATTATCCGAACAGCCAAAGTC       c.900
 L  S  W  T  D  E  K  Q  L  K  E  Q  N  I  I  R  T  A  K  V         p.300

          .         .         .         .         .         .       g.1349
 TGGACCCCAGAGGACCCCAGAAAACTCAACAGCAAATCTTCCTTCAACAACATAGAAAAC       c.960
 W  T  P  E  D  P  R  K  L  N  S  K  S  S  F  N  N  I  E  N         p.320

          .         .                                               g.1376
 GAACCACCATTTGAGTTTGTGTCCTGA                                        c.987
 E  P  P  F  E  F  V  S  X                                          p.328

          .         .         .         .         .         .       g.1436
 gaagtcccagactcggctgaagatctgattatgtctctgtgcatattgtacatgtaaata       c.*60

          .         .         .         .         .         .       g.1496
 tctataatgtaaatgtaatttaagaatcaaatttttcgaatggcaatcaactgtttatta       c.*120

          .         .         .         .         .         .       g.1556
 tttatctatttattatcctgttgagttgatgaaatagatgatttctttttaaatatataa       c.*180

          .         .         .         .         .         .       g.1616
 tttatataacttatcctgattttctgaaaatatgcaatagcctatgattttcctgaactc       c.*240

          .         .         .         .         .         .       g.1676
 tgtgttgttgggagaactctggccagaaaacgtcctgcttatttattgccagatatggtt       c.*300

          .         .         .         .                           g.1722
 tatttctaagcgttgtcaataaatgctatttacaccttttcctgaa                     c.*346

 (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 Pancreas specific transcription factor, 1a 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.