phosphatidylinositol glycan anchor biosynthesis, class L (PIGL) - 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_004278.3 in the PIGL gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032651.1, covering PIGL transcript NM_004278.3.

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

 (upstream sequence)
                               .         .         .                g.5032
                             ctactgcgcaggctcagtgctgcttacccatc       c.-1

          .         .         .         .         .         .       g.5092
 ATGGAAGCAATGTGGCTCCTGTGTGTGGCGTTGGCGGTCTTGGCATGGGGCTTCCTCTGG       c.60
 M  E  A  M  W  L  L  C  V  A  L  A  V  L  A  W  G  F  L  W         p.20

          .         .         .         .         .         .       g.5152
 GTTTGGGACTCCTCAGAACGAATGAAGAGTCGGGAGCAGGGAGGACGGCTGGGAGCCGAA       c.120
 V  W  D  S  S  E  R  M  K  S  R  E  Q  G  G  R  L  G  A  E         p.40

          .         .         .         .         .         .       g.5212
 AGCCGGACCCTGCTGGTCATAGCGCACCCTGACGATGAAGCCATGTTTTTTGCTCCCACA       c.180
 S  R  T  L  L  V  I  A  H  P  D  D  E  A  M  F  F  A  P  T         p.60

          .         .         .         .         .      | 02  .    g.21781
 GTGCTAGGCTTGGCCCGCCTAAGGCACTGGGTGTACCTGCTTTGCTTCTCTGCAG | GAAAT    c.240
 V  L  G  L  A  R  L  R  H  W  V  Y  L  L  C  F  S  A  G |   N      p.80

          .         .         .         .         .         .       g.21841
 TACTACAATCAAGGAGAGACTCGTAAGAAAGAACTTTTGCAGAGCTGTGATGTTTTGGGG       c.300
 Y  Y  N  Q  G  E  T  R  K  K  E  L  L  Q  S  C  D  V  L  G         p.100

          .         .         .      | 03  .         .         .    g.87718
 ATTCCACTCTCCAGTGTAATGATTATTGACAACAG | GGATTTCCCAGATGACCCAGGCATG    c.360
 I  P  L  S  S  V  M  I  I  D  N  R  |  D  F  P  D  D  P  G  M      p.120

          .         .         .         .         .         .       g.87778
 CAGTGGGACACAGAGCACGTGGCCAGAGTCCTCCTTCAGCACATAGAAGTGAATGGCATC       c.420
 Q  W  D  T  E  H  V  A  R  V  L  L  Q  H  I  E  V  N  G  I         p.140

        | 04 .         .         .         .         .         .    g.101406
 AATCTG | GTGGTGACTTTCGATGCAGGGGGAGTAAGTGGCCACAGCAATCACATTGCTCTG    c.480
 N  L   | V  V  T  F  D  A  G  G  V  S  G  H  S  N  H  I  A  L      p.160

          .     | 05   .         .         .       | 06 .         . g.105594
 TATGCAGCTGTGAG | GGCCCTGCACTCAGAAGGGAAGTTACCTAAAG | GGTGCTCTGTGCTC c.540
 Y  A  A  V  R  |  A  L  H  S  E  G  K  L  P  K  G |   C  S  V  L   p.180

          .         .         .         .         .         .       g.105654
 ACGCTTCAGTCTGTGAATGTGCTGCGCAAGTACATCTCCCTTCTGGATCTGCCCTTGTCT       c.600
 T  L  Q  S  V  N  V  L  R  K  Y  I  S  L  L  D  L  P  L  S         p.200

          .         .         .         .         .         .       g.105714
 CTGCTTCATACGCAGGATGTCCTCTTCGTGCTCAACAGCAAAGAAGTGGCACAGGCCAAG       c.660
 L  L  H  T  Q  D  V  L  F  V  L  N  S  K  E  V  A  Q  A  K         p.220

  | 07       .         .         .         .         .         .    g.113665
  | AAAGCCATGTCCTGCCACCGCAGCCAGCTCCTCTGGTTCCGCCGCCTCTACATTATCTTC    c.720
  | K  A  M  S  C  H  R  S  Q  L  L  W  F  R  R  L  Y  I  I  F      p.240

          .         .         .                                     g.113704
 TCCCGGTACATGAGAATCAACTCACTGAGCTTCCTCTGA                            c.759
 S  R  Y  M  R  I  N  S  L  S  F  L  X                              p.252

          .         .         .         .         .         .       g.113764
 agccttgaagggttttcagatccaaggaacaaaggggaaaatagacaaaggagtgcagag       c.*60

          .         .         .         .         .         .       g.113824
 gacctggcctggcactggcttatttacctgagctcaaggagatccccgctggagcagcct       c.*120

          .         .         .         .         .         .       g.113884
 ctgcaaaagggagcccatgtaggccaggggctgtccaaactccagcttcttcccctggga       c.*180

          .         .         .         .         .         .       g.113944
 aaaaacccaaagaaccaaaaacaaaccaccccaaggataataatagctacactgctagct       c.*240

          .         .         .         .         .         .       g.114004
 tctcaagttcttgtgaaaaacaatttacataatgacacagtagatgtggaacacctagcc       c.*300

          .         .         .         .         .         .       g.114064
 cagtgcctgggcaggtccctattatcataaatgaacataaaagtgctctaaaaacactcc       c.*360

                                                                    g.114065
 a                                                                  c.*361

 (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 Phosphatidylinositol glycan anchor biosynthesis, class L 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.