protease, serine, 1 (trypsin 1) (PRSS1) - coding DNA reference sequence

(used for variant description)

(last modified October 28, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_002769.4 in the PRSS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering PRSS1 transcript NM_002769.4.

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

 (upstream sequence)
                                                   .                g.5017
                                            aggcacactctaccacc       c.-1

          .         .         .         . | 02       .         .    g.6107
 ATGAATCCACTCCTGATCCTTACCTTTGTGGCAGCTGCTC | TTGCTGCCCCCTTTGATGAT    c.60
 M  N  P  L  L  I  L  T  F  V  A  A  A  L |   A  A  P  F  D  D      p.20

          .         .         .         .         .         .       g.6167
 GATGACAAGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCC       c.120
 D  D  K  I  V  G  G  Y  N  C  E  E  N  S  V  P  Y  Q  V  S         p.40

          .         .         .         .         .         .       g.6227
 CTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGTATCA       c.180
 L  N  S  G  Y  H  F  C  G  G  S  L  I  N  E  Q  W  V  V  S         p.60

          .         . | 03       .         .         .         .    g.7346
 GCAGGCCACTGCTACAAGTC | CCGCATCCAGGTGAGACTGGGAGAGCACAACATCGAAGTC    c.240
 A  G  H  C  Y  K  S  |  R  I  Q  V  R  L  G  E  H  N  I  E  V      p.80

          .         .         .         .         .         .       g.7406
 CTGGAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATCATCCGCCACCCCCAATACGAC       c.300
 L  E  G  N  E  Q  F  I  N  A  A  K  I  I  R  H  P  Q  Y  D         p.100

          .         .         .         .         .         .       g.7466
 AGGAAGACTCTGAACAATGACATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAAC       c.360
 R  K  T  L  N  N  D  I  M  L  I  K  L  S  S  R  A  V  I  N         p.120

          .         .         .         .         .         .       g.7526
 GCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTGGCACGAAGTGCCTC       c.420
 A  R  V  S  T  I  S  L  P  T  A  P  P  A  T  G  T  K  C  L         p.140

          .         .         .     | 04   .         .         .    g.7989
 ATCTCTGGCTGGGGCAACACTGCGAGCTCTGGCG | CCGACTACCCAGACGAGCTGCAGTGC    c.480
 I  S  G  W  G  N  T  A  S  S  G  A |   D  Y  P  D  E  L  Q  C      p.160

          .         .         .         .         .         .       g.8049
 CTGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACCCTGGAAAGATTACC       c.540
 L  D  A  P  V  L  S  Q  A  K  C  E  A  S  Y  P  G  K  I  T         p.180

          .         .         .         .         .  | 05      .    g.8409
 AGCAACATGTTCTGTGTGGGCTTCCTTGAGGGAGGCAAGGATTCATGTCAG | GGTGATTCT    c.600
 S  N  M  F  C  V  G  F  L  E  G  G  K  D  S  C  Q   | G  D  S      p.200

          .         .         .         .         .         .       g.8469
 GGTGGCCCTGTGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGT       c.660
 G  G  P  V  V  C  N  G  Q  L  Q  G  V  V  S  W  G  D  G  C         p.220

          .         .         .         .         .         .       g.8529
 GCCCAGAAGAACAAGCCTGGAGTCTACACCAAGGTCTACAACTATGTGAAATGGATTAAG       c.720
 A  Q  K  N  K  P  G  V  Y  T  K  V  Y  N  Y  V  K  W  I  K         p.240

          .         .                                               g.8553
 AACACCATAGCTGCCAATAGCTAA                                           c.744
 N  T  I  A  A  N  S  X                                             p.247

          .         .         .         .         .                 g.8609
 agcccccagtatctcttcagtctctataccaataaagtgaccctgttctcactgtc           c.*56

 (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 Protease, serine, 1 (trypsin 1) 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.