tryptase gamma 1 (TPSG1) - coding DNA reference sequence

(used for variant description)

(last modified June 21, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_012467.3 in the TPSG1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering TPSG1 transcript NM_012467.3.

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

 (upstream sequence)
                                                                    g.5002
                                                           cc       c.-1

          .         .         .         .       | 02 .         .    g.5640
 ATGGCCCTTGGGGCCTGTGGCCTCCTGCTGCTCCTGGCTGTGCCCG | GTGTGTCCCTCAGG    c.60
 M  A  L  G  A  C  G  L  L  L  L  L  A  V  P  G |   V  S  L  R      p.20

          .    | 03    .         .         .         .         .    g.6707
 ACTTTGCAGCCAG | GGTGTGGCCGGCCGCAGGTTTCGGATGCAGGCGGCCGGATCGTGGGG    c.120
 T  L  Q  P  G |   C  G  R  P  Q  V  S  D  A  G  G  R  I  V  G      p.40

          .         .         .         .         .         .       g.6767
 GGTCACGCTGCCCCGGCCGGCGCATGGCCATGGCAGGCCAGCCTCCGCCTGCGGAGGGTG       c.180
 G  H  A  A  P  A  G  A  W  P  W  Q  A  S  L  R  L  R  R  V         p.60

          .         .         .         .         .         .       g.6827
 CACGTGTGCGGCGGGTCACTGCTCAGCCCCCAGTGGGTGCTCACAGCTGCCCACTGCTTC       c.240
 H  V  C  G  G  S  L  L  S  P  Q  W  V  L  T  A  A  H  C  F         p.80

       | 04  .         .         .         .         .         .    g.7392
 TCCGG | GTCCCTGAACTCATCCGACTACCAGGTGCACCTGGGGGAACTGGAGATCACTCTG    c.300
 S  G  |  S  L  N  S  S  D  Y  Q  V  H  L  G  E  L  E  I  T  L      p.100

          .         .         .         .         .         .       g.7452
 TCTCCCCACTTCTCCACCGTGAGGCAGATCATCCTGCACTCCAGCCCCTCAGGACAGCCG       c.360
 S  P  H  F  S  T  V  R  Q  I  I  L  H  S  S  P  S  G  Q  P         p.120

          .         .         .         .         .         .       g.7512
 GGGACCAGCGGGGACATCGCCCTGGTGGAGCTCAGTGTCCCCGTGACCCTCTCCAGCCGG       c.420
 G  T  S  G  D  I  A  L  V  E  L  S  V  P  V  T  L  S  S  R         p.140

          .         .         .         .         .         .       g.7572
 ATCCTGCCCGTCTGCCTCCCGGAGGCCTCAGATGACTTCTGCCCTGGGATCCGGTGCTGG       c.480
 I  L  P  V  C  L  P  E  A  S  D  D  F  C  P  G  I  R  C  W         p.160

          .         .         .  | 05      .         .         .    g.7942
 GTGACCGGCTGGGGCTATACGCGGGAGGGAG | AGCCTCTGCCACCCCCGTACAGCCTGCGG    c.540
 V  T  G  W  G  Y  T  R  E  G  E |   P  L  P  P  P  Y  S  L  R      p.180

          .         .         .         .         .         .       g.8002
 GAGGTGAAAGTCTCCGTGGTGGACACAGAGACCTGCCGCCGGGACTATCCCGGCCCCGGG       c.600
 E  V  K  V  S  V  V  D  T  E  T  C  R  R  D  Y  P  G  P  G         p.200

          .         .         .         .         .        | 06.    g.8161
 GGCAGCATCCTTCAGCCCGACATGCTGTGTGCCCGGGGCCCCGGGGATGCCTGCCAG | GAC    c.660
 G  S  I  L  Q  P  D  M  L  C  A  R  G  P  G  D  A  C  Q   | D      p.220

          .         .         .         .         .         .       g.8221
 GACTCCGGGGGGCCTCTGGTCTGCCAGGTGAACGGTGCCTGGGTGCAGGCTGGCACTGTG       c.720
 D  S  G  G  P  L  V  C  Q  V  N  G  A  W  V  Q  A  G  T  V         p.240

          .         .         .         .         .         .       g.8281
 AGCTGGGGTGAGGGCTGCGGCCGCCCCAACAGGCCGGGAGTCTACACTCGTGTCCCTGCC       c.780
 S  W  G  E  G  C  G  R  P  N  R  P  G  V  Y  T  R  V  P  A         p.260

          .         .         .         .         .         .       g.8341
 TACGTGAACTGGATCCGCCGCCACATCACAGCATCAGGGGGCTCAGAGTCTGGGTACCCC       c.840
 Y  V  N  W  I  R  R  H  I  T  A  S  G  G  S  E  S  G  Y  P         p.280

          .         .         .         .         .         .       g.8401
 AGGCTCCCCCTCCTGGCTGGCTTCTTCCTCCCCGGCCTCTTCCTTCTGCTAGTCTCCTGT       c.900
 R  L  P  L  L  A  G  F  F  L  P  G  L  F  L  L  L  V  S  C         p.300

          .         .         .         .         .         .       g.8461
 GTCCTGCTGGCCAAGTGCCTGCTGCACCCATCTGCGGATGGTACTCCCTTCCCCGCCCCT       c.960
 V  L  L  A  K  C  L  L  H  P  S  A  D  G  T  P  F  P  A  P         p.320

                                                                    g.8467
 GACTGA                                                             c.966
 D  X                                                               p.321

          .         .         .         .         .         .       g.8527
 tggcaggaatccaagtgcatttcttaaataagttactatttattccgctccgccccctcc       c.*60

          .         .         .         .         .         .       g.8587
 ctctcccttgagaagctgagtcttctgcatcagattattgcaacatttaacctgaattta       c.*120

          .                                                         g.8604
 aaagcacacgaaacaaa                                                  c.*137

 (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 Tryptase gamma 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.