post-GPI attachment to proteins 3 (PGAP3) - coding DNA reference sequence

(used for variant description)

(last modified December 19, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_033419.3 in the PGAP3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering PGAP3 transcript NM_033419.3.

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

 (upstream sequence)
                     .         .         .         .                g.5043
                  atactcctaagctcctcccccggcggcgagccagggagaaagg       c.-1

          .         .         .         .         .         .       g.5103
 ATGGCCGGCCTGGCGGCGCGGTTGGTCCTGCTAGCTGGGGCAGCGGCGCTGGCGAGCGGC       c.60
 M  A  G  L  A  A  R  L  V  L  L  A  G  A  A  A  L  A  S  G         p.20

          .         .         .         .         .         .       g.5163
 TCCCAGGGCGACCGTGAGCCGGTGTACCGCGACTGCGTACTGCAGTGCGAAGAGCAGAAC       c.120
 S  Q  G  D  R  E  P  V  Y  R  D  C  V  L  Q  C  E  E  Q  N         p.40

          .         .         .         .         .         .       g.5223
 TGCTCTGGGGGCGCTCTGAATCACTTCCGCTCCCGCCAGCCAATCTACATGAGTCTAGCA       c.180
 C  S  G  G  A  L  N  H  F  R  S  R  Q  P  I  Y  M  S  L  A         p.60

   | 02      .         .         .         .         .         .    g.7097
 G | GCTGGACCTGTCGGGACGACTGTAAGTATGAGTGTATGTGGGTCACCGTTGGGCTCTAC    c.240
 G |   W  T  C  R  D  D  C  K  Y  E  C  M  W  V  T  V  G  L  Y      p.80

          .         .         .          | 03        .         .    g.8329
 CTCCAGGAAGGTCACAAAGTGCCTCAGTTCCATGGCAAG | TGGCCCTTCTCCCGGTTCCTG    c.300
 L  Q  E  G  H  K  V  P  Q  F  H  G  K   | W  P  F  S  R  F  L      p.100

          .         .         .         .         .         .       g.8389
 TTCTTTCAAGAGCCGGCATCGGCCGTGGCCTCGTTTCTCAATGGCCTGGCCAGCCTGGTG       c.360
 F  F  Q  E  P  A  S  A  V  A  S  F  L  N  G  L  A  S  L  V         p.120

          .         .         .         .         .         .       g.8449
 ATGCTCTGCCGCTACCGCACCTTCGTGCCAGCCTCCTCCCCCATGTACCACACCTGTGTG       c.420
 M  L  C  R  Y  R  T  F  V  P  A  S  S  P  M  Y  H  T  C  V         p.140

          .   | 04     .         .         .         .         .    g.18426
 GCCTTCGCCTGG | GTGTCCCTCAATGCATGGTTCTGGTCCACAGTTTTCCACACCAGGGAC    c.480
 A  F  A  W   | V  S  L  N  A  W  F  W  S  T  V  F  H  T  R  D      p.160

          .      | 05  .         .         .         .         .    g.19048
 ACTGACCTCACAGAG | AAAATGGACTACTTCTGTGCCTCCACTGTCATCCTACACTCAATC    c.540
 T  D  L  T  E   | K  M  D  Y  F  C  A  S  T  V  I  L  H  S  I      p.180

          .        | 06.         .         .         .         .    g.19450
 TACCTGTGCTGCGTCAG | GACCGTGGGGCTGCAGCACCCAGCTGTGGTCAGTGCCTTCCGG    c.600
 Y  L  C  C  V  R  |  T  V  G  L  Q  H  P  A  V  V  S  A  F  R      p.200

          .         .         .         .         .         .       g.19510
 GCTCTCCTGCTGCTCATGCTGACCGTGCACGTCTCCTACCTGAGCCTCATCCGCTTCGAC       c.660
 A  L  L  L  L  M  L  T  V  H  V  S  Y  L  S  L  I  R  F  D         p.220

          .         .         .     | 07   .         .         .    g.19828
 TATGGCTACAACCTGGTGGCCAACGTGGCTATTG | GCCTGGTCAACGTGGTGTGGTGGCTG    c.720
 Y  G  Y  N  L  V  A  N  V  A  I  G |   L  V  N  V  V  W  W  L      p.240

          .         .         .         .         .         .       g.19888
 GCCTGGTGCCTGTGGAACCAGCGGCGGCTGCCTCACGTGCGCAAGTGCGTGGTGGTGGTC       c.780
 A  W  C  L  W  N  Q  R  R  L  P  H  V  R  K  C  V  V  V  V         p.260

          .         .         .         .         .         .       g.19948
 TTGCTGCTGCAGGGGCTGTCCCTGCTCGAGCTGCTTGACTTCCCACCGCTCTTCTGGGTC       c.840
 L  L  L  Q  G  L  S  L  L  E  L  L  D  F  P  P  L  F  W  V         p.280

          .         .         .         .         .          | 08    g.20192
 CTGGATGCCCATGCCATCTGGCACATCAGCACCATCCCTGTCCACGTCCTCTTTTTCAG | C    c.900
 L  D  A  H  A  I  W  H  I  S  T  I  P  V  H  V  L  F  F  S  |      p.300

          .         .         .         .         .         .       g.20252
 TTTCTGGAAGATGACAGCCTGTACCTGCTGAAGGAATCAGAGGACAAGTTCAAGCTGGAC       c.960
 F  L  E  D  D  S  L  Y  L  L  K  E  S  E  D  K  F  K  L  D         p.320

                                                                    g.20255
 TGA                                                                c.963
 X                                                                  p.320

          .         .         .         .         .         .       g.20315
 agaccttggagcgagtctgccccagtggggatcctgcccccgccctgctggcctcccttc       c.*60

          .         .         .         .         .         .       g.20375
 tcccctcaacccttgagatgattttctcttttcaacttcttgaacttggacatgaaggat       c.*120

          .         .         .         .         .         .       g.20435
 gtgggcccagaatcatgtggccagcccaccccctgttggccctcaccagccttggagtct       c.*180

          .         .         .         .         .         .       g.20495
 gttctagggaaggcctcccagcatctgggactcgagagtgggcagcccctctacctcctg       c.*240

          .         .         .         .         .         .       g.20555
 gagctgaactggggtggaactgagtgtgctcttagctctaccgggaggacagctgcctgt       c.*300

          .         .         .         .         .         .       g.20615
 ttcctccccatcagcctcctccccacatccccagctgcctggctgggtcctgaagccctc       c.*360

          .         .         .         .         .         .       g.20675
 tgtctacctgggagaccagggaccacaggccttagggatacagggggtccccttctgtta       c.*420

          .         .         .         .         .         .       g.20735
 ccaccccccaccctcctccaggacaccactaggtggtgctggatgcttgttctttggcca       c.*480

          .         .         .         .         .         .       g.20795
 gccaaggttcacggcgattctccccatgggatcttgagggaccaagctgctgggattggg       c.*540

          .         .         .         .         .         .       g.20855
 aaggagtttcaccctgaccattgccctagccaggttcccaggaggcctcaccatactccc       c.*600

          .         .         .         .         .         .       g.20915
 tttcagggccagggctccagcaagcccagggcaaggatcctgtgctgctgtctggttgag       c.*660

          .         .         .         .         .         .       g.20975
 agcctgccaccgtgtgtcgggagtgtgggccaggctgagtgcataggtgacagggccgtg       c.*720

          .         .         .         .         .         .       g.21035
 agcatgggcctgggtgtgtgtgagctcaggcctaggtgcgcagtgtggagacgggtgttg       c.*780

          .         .         .         .         .         .       g.21095
 tcggggaagaggtgtggcttcaaagtgtgtgtgtgcagggggtgggtgtgttagcgtggg       c.*840

          .         .         .         .         .         .       g.21155
 ttaggggaacgtgtgtgcgcgtgctggtgggcatgtgagatgagtgactgccggtgaatg       c.*900

          .         .         .         .         .         .       g.21215
 tgtccacagttgagaggttggagcaggatgagggaatcctgtcaccatcaataatcactt       c.*960

          .         .         .         .         .         .       g.21275
 gtggagcgccagctctgcccaaggcgccacctgggcggacagccaggagctctccatggc       c.*1020

          .         .         .         .         .         .       g.21335
 caggctgcctgtgtgcatgttccctgtctggtgcccctttgcccgcctcctgcaaacctc       c.*1080

          .         .         .         .         .         .       g.21395
 acagggtccccacacaacagtgccctccagaagcagcccctcggaggcagaggaaggaaa       c.*1140

          .         .         .         .         .         .       g.21455
 atggggatggctggggctctctccatcctccttttctccttgccttcgcatggctggcct       c.*1200

          .         .         .         .         .         .       g.21515
 tcccctccaaaacctccattcccctgctgccagcccctttgccatagcctgattttgggg       c.*1260

          .         .         .         .         .         .       g.21575
 aggaggaaggggcgatttgagggagaaggggagaaagcttatggctgggtctggtttctt       c.*1320

          .         .         .         .         .         .       g.21635
 cccttcccagagggtcttactgttccagggtggccccagggcaggcaggggccacactat       c.*1380

          .         .         .         .         .         .       g.21695
 gcctgcgccctggtaaaggtgacccctgccatttaccagcagccctggcatgttcctgcc       c.*1440

          .         .         .         .         .         .       g.21755
 ccacaggaatagaatggagggagctccagaaactttccatcccaaaggcagtctccgtgg       c.*1500

          .         .         .         .         .         .       g.21815
 ttgaagcagactggatttttgctctgcccctgaccccttgtccctctttgagggagggga       c.*1560

          .         .         .         .         .         .       g.21875
 gctatgctaggactccaacctcagggactcgggtggcctgcgctagcttcttttgatact       c.*1620

          .         .         .         .         .         .       g.21935
 gaaaacttttaaggtgggagggtggcaagggatgtgcttaataaatcaattccaagcctc       c.*1680

                                                                    g.21936
 a                                                                  c.*1681

 (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 Post-GPI attachment to proteins 3 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.