proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

This file was created to facilitate the description of sequence variants in the PSTPIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000015.9, covering PSTPIP1 transcript NM_003978.3.

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

 (upstream sequence)
                               .         .         .                g.1030
                               acaaaccttcctgcgcaggcctcgggctgc       c.-421

 .         .         .         .         .         .                g.1090
 ctgcctgcctgcctgcctggcccggcccgagctccagcctgcctcttccactggccactg       c.-361

 .         .         .         .         .         .                g.1150
 cctcccacccagggctggcatccctgctccctgccctgggtcccagactgtgtcctccat       c.-301

 .         .         .         .         .         .                g.1210
 caccgcagggtcggtgaggggctgggctggacaccagggcccgccctcccatcactgagc       c.-241

 .         .         .         .         .         .                g.1270
 tccactccttcctcattttgctgctgattctagccccaaacaaaacaggttgagcttttt       c.-181

 .         .         .         .         .         .                g.1330
 cctcccctcagaagctcctctctggctcgtggctgccttctgagtgttgcagacggcgcc       c.-121

 .         .         .         .         .         .                g.1390
 ggccgggaaggggggcctgggccagccctgccaggactgggacgctgctgctggcgcctg       c.-61

 .         .         .         .         .         .                g.1450
 gccctccatcaggccagcctgtggcaggagagtgagctttgccgcggcagacgcctgagg       c.-1

          .         .         .       | 02 .         .         .    g.24048
 ATGATGCCCCAGCTGCAGTTCAAAGATGCCTTTTGG | TGCAGGGACTTCACAGCCCACACG    c.60
 M  M  P  Q  L  Q  F  K  D  A  F  W   | C  R  D  F  T  A  H  T      p.20

          .         .         .         .         .         .       g.24108
 GGCTACGAGGTGCTGCTGCAGCGGCTTCTGGATGGCAGGAAGATGTGCAAAGACATGGAG       c.120
 G  Y  E  V  L  L  Q  R  L  L  D  G  R  K  M  C  K  D  M  E         p.40

          .        | 03.         .         .         .         .    g.24376
 GAGCTACTGAGGCAGAG | GGCCCAGGCGGAGGAGCGGTACGGGAAGGAGCTGGTGCAGATC    c.180
 E  L  L  R  Q  R  |  A  Q  A  E  E  R  Y  G  K  E  L  V  Q  I      p.60

          .         .         .   | 04     .         .         .    g.31188
 GCACGGAAGGCAGGTGGCCAGACGGAGATCAA | CTCCCTGAGGGCCTCCTTTGACTCCTTG    c.240
 A  R  K  A  G  G  Q  T  E  I  N  |  S  L  R  A  S  F  D  S  L      p.80

         | 05.         .         .         .         .         .    g.31427
 AAGCAGC | AAATGGAGAATGTGGGCAGCTCACACATCCAGCTGGCCCTGACCCTGCGTGAG    c.300
 K  Q  Q |   M  E  N  V  G  S  S  H  I  Q  L  A  L  T  L  R  E      p.100

          .         .         .         .         .     | 06   .    g.33734
 GAGCTGCGGAGTCTCGAGGAGTTTCGTGAGAGGCAGAAGGAGCAGAGGAAGAAG | TATGAG    c.360
 E  L  R  S  L  E  E  F  R  E  R  Q  K  E  Q  R  K  K   | Y  E      p.120

          .         .         .         .         .        | 07.    g.34433
 GCCGTCATGGACCGGGTCCAGAAGAGCAAGCTGTCGCTCTACAAGAAGGCCATGGAG | TCC    c.420
 A  V  M  D  R  V  Q  K  S  K  L  S  L  Y  K  K  A  M  E   | S      p.140

          .         .         .         .         .         .       g.34493
 AAGAAGACATACGAGCAGAAGTGCCGGGACGCGGACGACGCGGAGCAGGCCTTCGAGCGC       c.480
 K  K  T  Y  E  Q  K  C  R  D  A  D  D  A  E  Q  A  F  E  R         p.160

          .         .         .       | 08 .         .         .    g.35429
 ATTAGCGCCAACGGCCACCAGAAGCAGGTGGAGAAG | AGTCAGAACAAAGCCAGGCAGTGC    c.540
 I  S  A  N  G  H  Q  K  Q  V  E  K   | S  Q  N  K  A  R  Q  C      p.180

          .         .   | 09     .         .         .         .    g.36416
 AAGGACTCGGCCACCGAGGCAG | AGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAG    c.600
 K  D  S  A  T  E  A  E |   R  V  Y  R  Q  S  I  A  Q  L  E  K      p.200

          .         .         .         .   | 10     .         .    g.37074
 GTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACCTGTGAG | GCCTTTCAGCTGCAAGAG    c.660
 V  R  A  E  W  E  Q  E  H  R  T  T  C  E   | A  F  Q  L  Q  E      p.220

          .         .         .         .         .         .       g.37134
 TTTGACCGGCTGACCATTCTCCGCAACGCCCTGTGGGTGCACAGCAACCAGCTCTCCATG       c.720
 F  D  R  L  T  I  L  R  N  A  L  W  V  H  S  N  Q  L  S  M         p.240

          .         .  | 11      .         .         .         .    g.38213
 CAGTGTGTCAAGGATGATGAG | CTCTACGAGGAAGTGCGGCTGACGCTGGAAGGCTGCAGC    c.780
 Q  C  V  K  D  D  E   | L  Y  E  E  V  R  L  T  L  E  G  C  S      p.260

          .         .         .         .         .         | 12    g.38740
 ATAGACGCCGACATCGACAGTTTCATCCAGGCCAAGAGCACGGGCACAGAGCCCCCCG | CT    c.840
 I  D  A  D  I  D  S  F  I  Q  A  K  S  T  G  T  E  P  P  A |       p.280

          .         .         .         .         .         .       g.38800
 CCGGTGCCCTACCAGAACTATTACGATCGGGAGGTCACCCCGCTGACCAGCAGCCCTGGC       c.900
 P  V  P  Y  Q  N  Y  Y  D  R  E  V  T  P  L  T  S  S  P  G         p.300

          .         .          | 13        .         .         .    g.41415
 ATACAGCCGTCCTGCGGCATGATAAAGAG | GTTCTCTGGACTGCTGCACGGAAGTCCCAAG    c.960
 I  Q  P  S  C  G  M  I  K  R  |  F  S  G  L  L  H  G  S  P  K      p.320

          .         .      | 14  .         .         .         .    g.41713
 ACCACTTCGTTGGCAGCTTCTGCTG | CGTCCACAGAGACCCTGACCCCCACCCCCGAGCGG    c.1020
 T  T  S  L  A  A  S  A  A |   S  T  E  T  L  T  P  T  P  E  R      p.340

          .         .         .         .         .         .       g.41773
 AATGAGGGTGTCTACACAGCCATCGCAGTGCAGGAGATACAGGGAAACCCGGCCTCACCA       c.1080
 N  E  G  V  Y  T  A  I  A  V  Q  E  I  Q  G  N  P  A  S  P         p.360

          .         .         .          | 15        .         .    g.42942
 GCCCAGGAGTACCGGGCGCTCTACGATTATACAGCGCAG | AACCCAGATGAGCTGGACCTG    c.1140
 A  Q  E  Y  R  A  L  Y  D  Y  T  A  Q   | N  P  D  E  L  D  L      p.380

          .         .         .         .         .         .       g.43002
 TCCGCGGGAGACATCCTGGAGGTGATCCTGGAAGGGGAGGATGGCTGGTGGACTGTGGAG       c.1200
 S  A  G  D  I  L  E  V  I  L  E  G  E  D  G  W  W  T  V  E         p.400

          .         .         .         .         .                 g.43053
 AGGAACGGGCAGCGTGGCTTCGTCCCTGGTTCCTACCTGGAGAAGCTTTGA                c.1251
 R  N  G  Q  R  G  F  V  P  G  S  Y  L  E  K  L  X                  p.416

          .         .         .         .         .         .       g.43113
 ggaagggccaggagccccttcggacctgccctgccagtggagccagcagtgcccccagca       c.*60

          .         .         .         .         .         .       g.43173
 ctgtccccaccttgctagggcccagaaccaagcgtcccccagccccgagagggagcctgt       c.*120

          .         .         .                                     g.43207
 cgtctcccagggaataaaggagtgcgttctgttc                                 c.*154

 (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 Proline-serine-threonine phosphatase interacting protein 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.