proline-rich transmembrane protein 2 (PRRT2) - coding DNA reference sequence

(used for variant description)

(last modified July 4, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_145239.2 in the PRRT2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032039.1, covering PRRT2 transcript NM_145239.2.

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

 (upstream sequence)
                                                                    g.5001
                                                            g       c.-301

 .         .         .         .         .         .                g.5061
 taacgcgtggctcccttgggctggcgggaggggccggaggctcgcgaggggcgggggcgg       c.-241

 .         .         .         .         .         .                g.5121
 cgacggcggcggagcgtaggggaggggaccggagaggaggggatgagcacacgggagagg       c.-181

 .         .         .         .         .         .                g.5181
 agaagagggagacccgccgcctccctccctccctagctgacttgctccctcccgggctgc       c.-121

 .         .         .         .         .         .     | 02       g.5907
 ggctgctgcaaaagccagcagcggcagcgggagctgtccggaggccggcgtcgag | ggttt    c.-61

 .         .         .         .         .         .                g.5967
 gccgctgtctctgctattccatcctccccataggggctctctcccctctcccatctcaag       c.-1

          .         .         .         .         .         .       g.6027
 ATGGCAGCCAGCAGCTCTGAGATCTCTGAGATGAAGGGGGTTGAGGAGAGTCCCAAGGTT       c.60
 M  A  A  S  S  S  E  I  S  E  M  K  G  V  E  E  S  P  K  V         p.20

          .         .         .         .         .         .       g.6087
 CCAGGCGAAGGGCCTGGCCATTCTGAAGCTGAAACTGGCCCTCCCCAGGTCCTAGCAGGG       c.120
 P  G  E  G  P  G  H  S  E  A  E  T  G  P  P  Q  V  L  A  G         p.40

          .         .         .         .         .         .       g.6147
 GTACCAGACCAGCCAGAGGCCCCGCAGCCAGGTCCAAACACCACTGCGGCCCCTGTGGAC       c.180
 V  P  D  Q  P  E  A  P  Q  P  G  P  N  T  T  A  A  P  V  D         p.60

          .         .         .         .         .         .       g.6207
 TCAGGGCCCAAGGCTGGGCTGGCTCCAGAAACCACAGAGACCCCGGCTGGGGCCTCAGAA       c.240
 S  G  P  K  A  G  L  A  P  E  T  T  E  T  P  A  G  A  S  E         p.80

          .         .         .         .         .         .       g.6267
 ACAGCCCAGGCCACAGACCTCAGCTTAAGCCCAGGAGGGGAATCAAAGGCCAACTGCAGC       c.300
 T  A  Q  A  T  D  L  S  L  S  P  G  G  E  S  K  A  N  C  S         p.100

          .         .         .         .         .         .       g.6327
 CCCGAAGACCCATGCCAAGAAACAGTGTCCAAACCAGAAGTGAGCAAAGAGGCCACTGCA       c.360
 P  E  D  P  C  Q  E  T  V  S  K  P  E  V  S  K  E  A  T  A         p.120

          .         .         .         .         .         .       g.6387
 GACCAGGGGTCCAGGCTGGAGTCTGCAGCCCCACCTGAACCAGCCCCAGAGCCTGCTCCC       c.420
 D  Q  G  S  R  L  E  S  A  A  P  P  E  P  A  P  E  P  A  P         p.140

          .         .         .         .         .         .       g.6447
 CAACCAGACCCCCGGCCAGATTCCCAGCCTACCCCCAAGCCAGCCCTTCAACCAGAGCTC       c.480
 Q  P  D  P  R  P  D  S  Q  P  T  P  K  P  A  L  Q  P  E  L         p.160

          .         .         .         .         .         .       g.6507
 CCTACCCAGGAGGACCCCACCCCTGAGATTCTGTCTGAGAGTGTAGGGGAAAAGCAAGAG       c.540
 P  T  Q  E  D  P  T  P  E  I  L  S  E  S  V  G  E  K  Q  E         p.180

          .         .         .         .         .         .       g.6567
 AATGGGGCAGTGGTGCCCCTGCAGGCTGGTGATGGGGAAGAGGGCCCAGCCCCTGAGCCT       c.600
 N  G  A  V  V  P  L  Q  A  G  D  G  E  E  G  P  A  P  E  P         p.200

          .         .         .         .         .         .       g.6627
 CACTCACCACCCTCAAAAAAATCCCCCCCAGCCAATGGGGCCCCCCCCCGAGTGCTGCAG       c.660
 H  S  P  P  S  K  K  S  P  P  A  N  G  A  P  P  R  V  L  Q         p.220

          .         .         .         .         .         .       g.6687
 CAGCTGGTTGAGGAGGATCGAATGAGAAGGGCACACAGTGGGCATCCAGGATCTCCCCGA       c.720
 Q  L  V  E  E  D  R  M  R  R  A  H  S  G  H  P  G  S  P  R         p.240

          .         .         .         .         .         .       g.6747
 GGTAGCCTGAGCCGCCACCCCAGCTCCCAGCTGGCAGGTCCTGGGGTGGAGGGGGGTGAA       c.780
 G  S  L  S  R  H  P  S  S  Q  L  A  G  P  G  V  E  G  G  E         p.260

          .         .         .         .         .         .       g.6807
 GGCACCCAGAAACCTCGGGACTACATCATCCTTGCCATCCTGTCCTGCTTCTGCCCCATG       c.840
 G  T  Q  K  P  R  D  Y  I  I  L  A  I  L  S  C  F  C  P  M         p.280

          .         .         .          | 03        .         .    g.7266
 TGGCCTGTCAACATCGTGGCCTTCGCTTATGCTGTCATG | TCCCGGAACAGCCTGCAGCAG    c.900
 W  P  V  N  I  V  A  F  A  Y  A  V  M   | S  R  N  S  L  Q  Q      p.300

          .         .         .         .         .         .       g.7326
 GGGGACGTGGACGGGGCCCAGCGTCTGGGCCGGGTAGCCAAGCTCTTAAGCATCGTGGCG       c.960
 G  D  V  D  G  A  Q  R  L  G  R  V  A  K  L  L  S  I  V  A         p.320

          .         .         .         .         .   | 04     .    g.7548
 CTGGTGGGGGGAGTCCTCATCATCATCGCCTCCTGCGTCATCAACTTAGGCG | TGTATAAG    c.1020
 L  V  G  G  V  L  I  I  I  A  S  C  V  I  N  L  G  V |   Y  K      p.340

                                                                    g.7551
 TGA                                                                c.1023
 X                                                                  p.340

          .         .         .         .         .         .       g.7611
 ggggctctgccccgcatcccaagacttttcttcctgttgggagctgccttgggcccatcc       c.*60

          .         .         .         .         .         .       g.7671
 ctcccctggggggagcccaactgatggccctggcccccacccctaaggaccaagggagcc       c.*120

          .         .         .         .         .         .       g.7731
 tgagcggccttgtttacagcttctgtcctgctcctgcatcttgccaggctcctctgccaa       c.*180

          .         .         .         .         .         .       g.7791
 ctgtaggcctgcctcatccctgcactggttccaacctccctgcactaatgcctgcatccc       c.*240

          .         .         .         .         .         .       g.7851
 ctccggcctcttggccccctatccctgcacttctggaaacctccctgcactctggaaacc       c.*300

          .         .         .         .         .         .       g.7911
 tccctgaacacctccccaactctgcgctctcagcctccctgcatctctcctggcctccct       c.*360

          .         .         .         .         .         .       g.7971
 gcacttcttccagccccccaaattctctggacctccaccctggccgcctcctcccaactt       c.*420

          .         .         .         .         .         .       g.8031
 tcattgtcttggcatctctcaaccctcagtcctctcttccttcccttctttatcatctcc       c.*480

          .         .         .         .         .         .       g.8091
 cctttcctctccacgtcccgcccccttcctcttcctgcctcctcatctcccttaagcatc       c.*540

          .         .         .         .         .         .       g.8151
 ctcttctccaacctcccgtcaccgtttactctgcaaaattgacagcacttagacgaggct       c.*600

          .         .         .         .         .         .       g.8211
 tgggggcagggagcagtgttgggagagggctccccaaccccaggctcggactgttctctg       c.*660

          .         .         .         .         .         .       g.8271
 ctgggaccacccagggtcggacacccaagggtgcctggcaggtcgcagagttggcaagcc       c.*720

          .         .         .         .         .         .       g.8331
 gggcctcgtatggggactcgggtgagggtggcgagtactggttccgaacgcacgcagggg       c.*780

          .         .         .         .         .         .       g.8391
 agaagggagggacgcggcgctgacccttccaggtcagctggagttgacccgcccacctgg       c.*840

          .         .         .         .         .         .       g.8451
 gcttttcaaccccagtccgcgagtttctttcttgaaggtgtgggggctagattcattcac       c.*900

          .         .         .         .         .         .       g.8511
 gtgcttcgtaatgaaataatccaaaaaataggaccaaagcgcccactggcaggagcgagg       c.*960

          .         .         .         .         .         .       g.8571
 gcggggcgccgcgctctataattattttctaagatgatgggggaggtttgttgcacgcga       c.*1020

          .         .         .         .         .         .       g.8631
 cagcccgctgaggaggcggggaccgagctacaacgcggttcggatttggcgggggttttt       c.*1080

          .         .         .         .         .         .       g.8691
 ttccttaaaaaaaaaaaaaaaaaaaaaaaaaaagtctgggggaagaaaaaaactaaaatt       c.*1140

          .         .         .         .         .         .       g.8751
 cttaaaaaaaaaaaaaaaaggctattatcaaactgatttctccctttttgtatgccggat       c.*1200

          .         .         .         .                           g.8794
 gctgcatgagtctgaaacaccaataaacggagactgcatgaga                        c.*1243

 (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-rich transmembrane protein 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 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.