phosphatidylinositol glycan anchor biosynthesis, class F (PIGF) - coding DNA reference sequence

(used for variant description)

(last modified December 15, 2021)


This file was created to facilitate the description of sequence variants on transcript NM_002643.3 in the PIGF gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering PIGF transcript NM_002643.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5044
                 cgcccctccctttctgcgactggctgttaggcgtgggtctccgc       c.-121

 .         .         .         .         .         .                g.5104
 cccacagccctgcgcctgcgcgtgggcctgggccgcccgtcgtacctgatggtaggaggc       c.-61

 .         .         .         .         | 02         .             g.6948
 agtagttccccgcttcccttccgcgggagggagagttag | ctagccatccaagaaaacacc    c.-1

          .         .         .         .         .         .       g.7008
 ATGAAAGATAACGATATCAAGAGACTACTGTATACCCATCTTTTATGCATATTTTCAATT       c.60
 M  K  D  N  D  I  K  R  L  L  Y  T  H  L  L  C  I  F  S  I         p.20

          .         .         .         .         .         .       g.7068
 ATCCTAAGTGTCTTCATTCCATCACTCTTCTTGGAGAACTTCTCAATATTGGAAACACAC       c.120
 I  L  S  V  F  I  P  S  L  F  L  E  N  F  S  I  L  E  T  H         p.40

          .         .         .         .         .         .       g.7128
 TTGACATGGTTGTGCATCTGTTCTGGTTTTGTAACTGCTGTCAATCTAGTACTATATTTA       c.180
 L  T  W  L  C  I  C  S  G  F  V  T  A  V  N  L  V  L  Y  L         p.60

          .         .         .         .         | 03         .    g.8339
 GTAGTGAAACCAAATACATCCTCTAAAAGAAGTTCATTATCACACAAG | GTAACTGGATTT    c.240
 V  V  K  P  N  T  S  S  K  R  S  S  L  S  H  K   | V  T  G  F      p.80

          .         .         .         .         .         .       g.8399
 TTGAAATGCTGTATCTACTTTCTTATGTCTTGTTTCTCCTTTCATGTAATTTTTGTTCTG       c.300
 L  K  C  C  I  Y  F  L  M  S  C  F  S  F  H  V  I  F  V  L         p.100

          .         . | 04       .         .         .         .    g.9808
 TATGGAGCACCACTGATAGA | GTTGGCATTGGAAACATTTTTATTTGCAGTTATTTTGTCT    c.360
 Y  G  A  P  L  I  E  |  L  A  L  E  T  F  L  F  A  V  I  L  S      p.120

          .         .         .         .         .         .       g.9868
 ACTTTTACTACTGTGCCTTGCTTATGTTTGTTAGGACCAAACCTCAAAGCATGGCTAAGA       c.420
 T  F  T  T  V  P  C  L  C  L  L  G  P  N  L  K  A  W  L  R         p.140

          .        | 05.         .         .         .         .    g.29572
 GTGTTCAGTAGAAATGG | AGTTACATCCATATGGGAGAATAGTCTCCAGATCACTACAATT    c.480
 V  F  S  R  N  G  |  V  T  S  I  W  E  N  S  L  Q  I  T  T  I      p.160

          .         .         .         .         .         .       g.29632
 TCTAGCTTTGTAGGAGCATGGCTTGGAGCACTTCCTATTCCACTGGATTGGGAAAGACCA       c.540
 S  S  F  V  G  A  W  L  G  A  L  P  I  P  L  D  W  E  R  P         p.180

        | 06 .         .         .         .         .         .    g.40575
 TGGCAG | GTATGGCCCATCTCCTGTACGCTTGGAGCGACCTTTGGCTACGTGGCTGGCCTT    c.600
 W  Q   | V  W  P  I  S  C  T  L  G  A  T  F  G  Y  V  A  G  L      p.200

          .         .         .         .         .         .       g.40635
 GTTATTTCACCACTCTGGATATACTGGAATAGAAAGCAACTTACATACAAGAACAATTAA       c.660
 V  I  S  P  L  W  I  Y  W  N  R  K  Q  L  T  Y  K  N  N  X         p.219

          .         .         .         .         .         .       g.40695
 ctggagcaaagggagatatttctttgtgcagattctgtaagggctgggcagaaatgtgta       c.*60

          .         .         .         .         .         .       g.40755
 tggtcaaagccaagcagttccatttacagctctgttttttacgtagttacaacatgatgt       c.*120

          .         .         .         .         .         .       g.40815
 gattgtagctttttaaactatgaaacccctgagagattgtaccttctagttgaaataaag       c.*180

          .         .                                               g.40839
 tatttataatagattgtggcttca                                           c.*204

 (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 10th nucleotide is indicated by a "." above the sequence. The Phosphatidylinositol glycan anchor biosynthesis, class F protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

Powered by LOVD v.3.0 Build 27
©2004-2021 Leiden University Medical Center