paired-like homeodomain 3 (PITX3) - coding DNA reference sequence

(used for variant description)

(last modified May 26, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_005029.3 in the PITX3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008147.1, covering PITX3 transcript NM_005029.3.

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

 (upstream sequence)
                               .         .         .                g.5034
                           ggagcgcccgagcggagaggcggcccgggagcag       c.-121

 .         .         .         .         .         .                g.5094
 gggggcggcccccactccggccgggtgcccggcccctggcccctgcctgccctctagatc       c.-61

 .         .         .         .         .        | 02.             g.14394
 gccgccgcagccgccgctactgggagtctgcctgttgcaggacgcact | agccctccctcc    c.-1

          .         .         .         .         .         .       g.14454
 ATGGAGTTCGGCCTGCTCAGCGAGGCAGAGGCCCGGAGCCCTGCCCTGTCGCTGTCAGAC       c.60
 M  E  F  G  L  L  S  E  A  E  A  R  S  P  A  L  S  L  S  D         p.20

          .         .         .         .         .         | 03    g.14686
 GCTGGCACTCCGCACCCCCAGCTCCCAGAGCACGGCTGCAAGGGCCAGGAGCACAGCG | AC    c.120
 A  G  T  P  H  P  Q  L  P  E  H  G  C  K  G  Q  E  H  S  D |       p.40

          .         .         .         .         .         .       g.14746
 TCAGAAAAGGCCTCGGCTTCGCTGCCCGGCGGCTCCCCAGAGGACGGTTCGCTGAAAAAG       c.180
 S  E  K  A  S  A  S  L  P  G  G  S  P  E  D  G  S  L  K  K         p.60

          .         .         .         .         .         .       g.14806
 AAGCAGCGGCGGCAGCGCACGCACTTCACCAGCCAGCAGCTACAGGAGCTAGAGGCGACC       c.240
 K  Q  R  R  Q  R  T  H  F  T  S  Q  Q  L  Q  E  L  E  A  T         p.80

          .         .         .         .         .         .       g.14866
 TTCCAGAGGAACCGCTACCCCGACATGAGCACGCGCGAGGAGATCGCCGTGTGGACCAAC       c.300
 F  Q  R  N  R  Y  P  D  M  S  T  R  E  E  I  A  V  W  T  N         p.100

          .         .  | 04      .         .         .         .    g.15412
 CTCACCGAGGCCCGCGTGCGG | GTGTGGTTCAAGAACCGGCGCGCCAAATGGCGGAAGCGC    c.360
 L  T  E  A  R  V  R   | V  W  F  K  N  R  R  A  K  W  R  K  R      p.120

          .         .         .         .         .         .       g.15472
 GAGCGCAGCCAGCAGGCCGAGCTATGCAAAGGCAGCTTCGCGGCGCCGCTCGGGGGGCTG       c.420
 E  R  S  Q  Q  A  E  L  C  K  G  S  F  A  A  P  L  G  G  L         p.140

          .         .         .         .         .         .       g.15532
 GTGCCGCCCTACGAGGAGGTGTACCCCGGCTACTCGTACGGCAACTGGCCGCCCAAGGCT       c.480
 V  P  P  Y  E  E  V  Y  P  G  Y  S  Y  G  N  W  P  P  K  A         p.160

          .         .         .         .         .         .       g.15592
 CTTGCCCCGCCGCTCGCCGCCAAGACCTTTCCATTCGCCTTCAACTCGGTCAACGTGGGG       c.540
 L  A  P  P  L  A  A  K  T  F  P  F  A  F  N  S  V  N  V  G         p.180

          .         .         .         .         .         .       g.15652
 CCTCTGGCTTCGCAGCCCGTCTTCTCGCCACCCAGCTCCATCGCCGCCTCCATGGTGCCC       c.600
 P  L  A  S  Q  P  V  F  S  P  P  S  S  I  A  A  S  M  V  P         p.200

          .         .         .         .         .         .       g.15712
 TCCGCCGCGGCTGCCCCGGGCACCGTGCCAGGGCCTGGGGCCCTGCAGGGCCTGGGCGGG       c.660
 S  A  A  A  A  P  G  T  V  P  G  P  G  A  L  Q  G  L  G  G         p.220

          .         .         .         .         .         .       g.15772
 GGCCCCCCCGGGCTGGCTCCGGCCGCCGTGTCCTCCGGGGCCGTGTCCTGCCCTTATGCC       c.720
 G  P  P  G  L  A  P  A  A  V  S  S  G  A  V  S  C  P  Y  A         p.240

          .         .         .         .         .         .       g.15832
 TCGGCCGCCGCCGCCGCCGCGGCTGCCGCCTCTTCCCCCTACGTCTATCGGGACCCGTGT       c.780
 S  A  A  A  A  A  A  A  A  A  S  S  P  Y  V  Y  R  D  P  C         p.260

          .         .         .         .         .         .       g.15892
 AACTCGAGCCTGGCCAGCCTGCGGCTCAAAGCCAAACAGCACGCCTCCTTCAGCTACCCC       c.840
 N  S  S  L  A  S  L  R  L  K  A  K  Q  H  A  S  F  S  Y  P         p.280

          .         .         .         .         .         .       g.15952
 GCTGTGCACGGGCCGCCCCCGGCAGCCAACCTTAGTCCGTGCCAGTACGCCGTGGAAAGG       c.900
 A  V  H  G  P  P  P  A  A  N  L  S  P  C  Q  Y  A  V  E  R         p.300

                                                                    g.15961
 CCCGTATGA                                                          c.909
 P  V  X                                                            p.302

          .         .         .         .         .         .       g.16021
 gcggccccgcccgtagatcatccccgagggcgggggcaacgattcacagcctccgcggac       c.*60

          .         .         .         .         .         .       g.16081
 tggggtcattttgactggcttgctcccgccccagggtctgaaaggggtgtttgggcagct       c.*120

          .         .         .         .         .         .       g.16141
 ggggggcaccggctcaggagagggccttcccctcccagccctgaggggtggactaggccc       c.*180

          .         .         .         .         .         .       g.16201
 tacacacagaccgcgcccctgggactaaagccaggaacagggaccagctccccgggggcc       c.*240

          .         .         .         .         .         .       g.16261
 aactcacccttggcccatcccgccttctccaggcttcccctccctcgttttcaaagataa       c.*300

          .         .                                               g.16286
 atgaaataaacgtgcgcggactgtc                                          c.*325

 (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 Paired-like homeodomain 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.