NK2 homeobox 3 (NKX2-3) - coding DNA reference sequence

(used for variant description)

(last modified August 30, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_145285.2 in the NKX2-3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016854.1, covering NKX2-3 transcript NM_145285.2.

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

 (upstream sequence)
                                                   .                g.5019
                                          agtccctgcagtggctgta       c.-181

 .         .         .         .         .         .                g.5079
 acaaaacccagacccccaggtcccggccaatggaggcgatttagactggagtgggaccgc       c.-121

 .         .         .         .         .         .                g.5139
 gtctgtcaaaagcccgactcggcagcagcggcggagtccaggaggagagctggagccgcc       c.-61

 .         .         .         .         .         .                g.5199
 gcgctgcctccccgcccccgccgggatttattatttggactggacaattaagtggccctg       c.-1

          .         .         .         .         .         .       g.5259
 ATGATGTTACCAAGCCCGGTCACCTCCACCCCTTTCTCAGTCAAAGACATTTTGAATCTG       c.60
 M  M  L  P  S  P  V  T  S  T  P  F  S  V  K  D  I  L  N  L         p.20

          .         .         .         .         .         .       g.5319
 GAGCAGCAGCACCAGCACTTCCATGGTGCGCACTTGCAGGCGGACTTGGAGCACCACTTC       c.120
 E  Q  Q  H  Q  H  F  H  G  A  H  L  Q  A  D  L  E  H  H  F         p.40

          .         .         .         .         .         .       g.5379
 CACTCTGCGCCCTGCATGCTGGCCGCCGCTGAGGGGACGCAATTTTCTGACGGAGGGGAG       c.180
 H  S  A  P  C  M  L  A  A  A  E  G  T  Q  F  S  D  G  G  E         p.60

          .         .         .         .         .         .       g.5439
 GAGGACGAGGAAGACGAGGGCGAGAAATTGTCCTATTTGAACTCACTAGCCGCAGCAGAC       c.240
 E  D  E  E  D  E  G  E  K  L  S  Y  L  N  S  L  A  A  A  D         p.80

          .         .         .         .         .         .       g.5499
 GGCCACGGGGATTCAGGGCTGTGTCCCCAGGGCTATGTCCACACGGTCCTGCGAGACTCG       c.300
 G  H  G  D  S  G  L  C  P  Q  G  Y  V  H  T  V  L  R  D  S         p.100

          .         .         .         .         .         | 02    g.7054
 TGCAGCGAGCCCAAGGAACATGAAGAGGAGCCCGAGGTCGTGAGGGACCGGAGCCAAA | AA    c.360
 C  S  E  P  K  E  H  E  E  E  P  E  V  V  R  D  R  S  Q  K |       p.120

          .         .         .         .         .         .       g.7114
 AGCTGCCAGCTGAAGAAGTCTCTAGAGACGGCCGGAGACTGCAAGGCGGCGGAGGAGAGC       c.420
 S  C  Q  L  K  K  S  L  E  T  A  G  D  C  K  A  A  E  E  S         p.140

          .         .         .         .         .         .       g.7174
 GAGAGGCCGAAGCCACGCAGCCGCCGGAAGCCCCGGGTCCTCTTCTCGCAAGCCCAGGTC       c.480
 E  R  P  K  P  R  S  R  R  K  P  R  V  L  F  S  Q  A  Q  V         p.160

          .         .         .         .         .         .       g.7234
 TTCGAGCTGGAACGCAGGTTCAAGCAGCAGCGGTACCTGTCGGCACCCGAGCGCGAGCAC       c.540
 F  E  L  E  R  R  F  K  Q  Q  R  Y  L  S  A  P  E  R  E  H         p.180

          .         .         .         .         .         .       g.7294
 CTCGCCAGCAGCCTGAAGCTCACATCCACTCAGGTGAAAATCTGGTTCCAGAATCGCAGG       c.600
 L  A  S  S  L  K  L  T  S  T  Q  V  K  I  W  F  Q  N  R  R         p.200

          .         .         .         .         .         .       g.7354
 TACAAGTGCAAGAGACAGCGGCAGGACAAGTCTCTGGAGCTTGGCGCACACGCGCCCCCG       c.660
 Y  K  C  K  R  Q  R  Q  D  K  S  L  E  L  G  A  H  A  P  P         p.220

          .         .         .         .         .         .       g.7414
 CCGCCGCCGCGCCGCGTGGCTGTCCCGGTGCTGGTGCGGGACGGCAAGCCGTGCGTCACG       c.720
 P  P  P  R  R  V  A  V  P  V  L  V  R  D  G  K  P  C  V  T         p.240

          .         .         .         .         .         .       g.7474
 CCCAGCGCGCAGGCCTACGGCGCGCCCTACAGCGTGGGCGCCAGCGCCTACTCCTACAAC       c.780
 P  S  A  Q  A  Y  G  A  P  Y  S  V  G  A  S  A  Y  S  Y  N         p.260

          .         .         .         .         .         .       g.7534
 AGCTTCCCCGCCTACGGCTATGGGAACTCGGCCGCGGCCGCCGCCGCCGCCGCCGCCGCC       c.840
 S  F  P  A  Y  G  Y  G  N  S  A  A  A  A  A  A  A  A  A  A         p.280

          .         .         .         .         .         .       g.7594
 GCCGCAGCAGCGGCGGCCTACAGCAGCAGCTATGGCTGTGCGTACCCGGCGGGCGGCGGC       c.900
 A  A  A  A  A  A  Y  S  S  S  Y  G  C  A  Y  P  A  G  G  G         p.300

          .         .         .         .         .         .       g.7654
 GGCGGCGGCGGCGGGACCTCCGCGGCGACCACTGCCATGCAGCCCGCCTGCAGCGCGGCC       c.960
 G  G  G  G  G  T  S  A  A  T  T  A  M  Q  P  A  C  S  A  A         p.320

          .         .         .         .         .         .       g.7714
 GGAGGCGGCCCCTTTGTGAACGTGAGCAACCTAGGAGGCTTCGGCAGCGGCGGCAGCGCA       c.1020
 G  G  G  P  F  V  N  V  S  N  L  G  G  F  G  S  G  G  S  A         p.340

          .         .         .         .         .         .       g.7774
 CAGCCGTTGCACCAGGGTACTGCAGCCGGGGCCGCGTGCGCTCAGGGCACCTTGCAGGGC       c.1080
 Q  P  L  H  Q  G  T  A  A  G  A  A  C  A  Q  G  T  L  Q  G         p.360

          .                                                         g.7789
 ATCCGGGCCTGGTAG                                                    c.1095
 I  R  A  W  X                                                      p.364

          .         .         .         .         .         .       g.7849
 ggacggggcgggtcacgcggcgggcaccccagcgcagcctggcgccgcgggactgaagct       c.*60

          .         .         .         .         .         .       g.7909
 cgagaagggcctgacctaaaggtcaggtcccctcgttaaaaaaatatgtacgtctagctc       c.*120

          .         .         .         .         .         .       g.7969
 ctcagggcttcggatcgcagctcactcgaggcctggggaaggggactcaggggcgaggag       c.*180

          .         .         .         .         .         .       g.8029
 gatgactgggtccggtcgccaggactgtctctgaggcagaaacgccggctgggcgccggg       c.*240

          .         .         .         .         .         .       g.8089
 gaggacgatggccccgaccctggcagcgagaggagaccaggaggctaggaccctggccgc       c.*300

          .         .         .         .         .         .       g.8149
 gcttggttcttccaaagcgagaagggcttctctccctctgcctttccgcggcctccgcga       c.*360

          .         .         .         .         .         .       g.8209
 agcgttggcggggagcccaaggacataacaaattaaaagcatgaaggagagaaaaatggg       c.*420

          .         .         .         .         .         .       g.8269
 ggtcgtggcttgagaaattccaggccctaccgatcctctgccccctttgcgggcctggag       c.*480

          .         .         .         .         .         .       g.8329
 cgccatagcacagtcgatttcgtttcgcagctgtctcccctccgcagcagatacctcggt       c.*540

          .         .         .         .         .         .       g.8389
 ccagatctccggattgtcgggggacgcaggactcttcgaggaaaaccagccgaatgagat       c.*600

          .         .         .         .         .         .       g.8449
 caaaagttgggggtggggggaggctgaacaaactcaggacctggtggcccaccggaggtg       c.*660

          .         .         .         .         .         .       g.8509
 ttaccgggtttcctttctgtttcgtattctgtattcagcacatgttatctatctatctat       c.*720

          .         .         .         .         .         .       g.8569
 ctatataactataaccacacgccgtgtagacacccgctgccacacactacaggagtcaat       c.*780

          .         .                                               g.8592
 aaacaaggtgcaatattttcaaa                                            c.*803

 (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 NK2 homeobox 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.