H6 family homeobox 1 (HMX1) - coding DNA reference sequence

(used for variant description)

(last modified July 24, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_018942.2 in the HMX1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013062.1, covering HMX1 transcript NM_018942.2.

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

 (upstream sequence)
                                         .         .                g.5023
                                      ccgatcagctgtcggcgcgcact       c.-181

 .         .         .         .         .         .                g.5083
 cgctcccggcccggcccagcccagcccggcgcggaggccgccgcctgccctgcggggccc       c.-121

 .         .         .         .         .         .                g.5143
 gacgccagcggtccgggtagcagctccagggccggcccgcgcgtgcgcccgggagccgcg       c.-61

 .         .         .         .         .         .                g.5203
 cgccaccatccccagcggggaccgaggagcccggccgagcccgagaagcccgcggccgcg       c.-1

          .         .         .         .         .         .       g.5263
 ATGCCTGACGAGCTGACGGAGCCCGGGCGCGCCACGCCGGCCCGCGCCTCCTCCTTCCTC       c.60
 M  P  D  E  L  T  E  P  G  R  A  T  P  A  R  A  S  S  F  L         p.20

          .         .         .         .         .         .       g.5323
 ATCGAGAACCTGCTGGCGGCCGAGGCCAAGGGCGCAGGGCGCGCGACCCAGGGCGACGGC       c.120
 I  E  N  L  L  A  A  E  A  K  G  A  G  R  A  T  Q  G  D  G         p.40

          .         .         .         .         .         .       g.5383
 AGCCGGGAGGACGAGGAGGAGGACGACGACGACCCCGAAGACGAGGACGCCGAGCAGGCG       c.180
 S  R  E  D  E  E  E  D  D  D  D  P  E  D  E  D  A  E  Q  A         p.60

          .         .         .         .         .         .       g.5443
 CGGCGGCGACGGCTACAGCGGCGGCGACAGTTGCTCGCGGGCACCGGGCCCGGCGGGGAG       c.240
 R  R  R  R  L  Q  R  R  R  Q  L  L  A  G  T  G  P  G  G  E         p.80

          .         .         .         .         .         .       g.5503
 GCGCGGGCCCGTGCGCTGCTCGGGCCGGGCGCGCTGGGCCTCGGTCCTCGGCCGCCCCCC       c.300
 A  R  A  R  A  L  L  G  P  G  A  L  G  L  G  P  R  P  P  P         p.100

          .         .         .         .         .         .       g.5563
 GGTCCCGGGCCGCCCTTCGCTCTGGGCTGCGGAGGCGCAGCGCGCTGGTACCCACGGGCG       c.360
 G  P  G  P  P  F  A  L  G  C  G  G  A  A  R  W  Y  P  R  A         p.120

          .         .         .     | 02   .         .         .    g.8498
 CACGGTGGCTATGGAGGCGGCCTCAGTCCTGACA | CCAGCGACCGGGACTCACCGGAGACG    c.420
 H  G  G  Y  G  G  G  L  S  P  D  T |   S  D  R  D  S  P  E  T      p.140

          .         .         .         .         .         .       g.8558
 GGCGAGGAGATGGGCCGTGCGGAGGGCGCCTGGCCGCGAGGCCCCGGGCCGGGAGCGGTG       c.480
 G  E  E  M  G  R  A  E  G  A  W  P  R  G  P  G  P  G  A  V         p.160

          .         .         .         .         .         .       g.8618
 CAGCGGGAGGCAGCGGAGCTGGCGGCGCGTGGCCCGGCGGCCGGCACGGAGGAGGCGTCG       c.540
 Q  R  E  A  A  E  L  A  A  R  G  P  A  A  G  T  E  E  A  S         p.180

          .         .         .         .         .         .       g.8678
 GAGCTGGCCGAGGTCCCTGCGGCGGCTGGGGAGACACGCGGCGGCGTTGGCGTGGGCGGC       c.600
 E  L  A  E  V  P  A  A  A  G  E  T  R  G  G  V  G  V  G  G         p.200

          .         .         .         .         .         .       g.8738
 GGCCGAAAGAAGAAGACGCGCACAGTCTTCTCCCGCAGCCAGGTCTTCCAGCTGGAATCC       c.660
 G  R  K  K  K  T  R  T  V  F  S  R  S  Q  V  F  Q  L  E  S         p.220

          .         .         .         .         .         .       g.8798
 ACCTTCGACCTGAAGCGCTACCTGAGCAGCGCCGAGCGCGCCGGCCTGGCCGCCTCCCTG       c.720
 T  F  D  L  K  R  Y  L  S  S  A  E  R  A  G  L  A  A  S  L         p.240

          .         .         .         .         .         .       g.8858
 CAGCTCACCGAGACGCAGGTTAAGATCTGGTTCCAGAACCGCCGCAACAAGTGGAAGCGG       c.780
 Q  L  T  E  T  Q  V  K  I  W  F  Q  N  R  R  N  K  W  K  R         p.260

          .         .         .         .         .         .       g.8918
 CAGCTGGCAGCCGAGCTGGAGGCGGCCAGCCTGTCCCCGCCGGGAGCGCAGCGCCTGGTC       c.840
 Q  L  A  A  E  L  E  A  A  S  L  S  P  P  G  A  Q  R  L  V         p.280

          .         .         .         .         .         .       g.8978
 CGCGTGCCGGTGCTCTACCACGAAAGCCCCCCGGCCGCAGCCGCCGCTGGGCCCCCGGCC       c.900
 R  V  P  V  L  Y  H  E  S  P  P  A  A  A  A  A  G  P  P  A         p.300

          .         .         .         .         .         .       g.9038
 ACCCTGCCCTTCCCGCTGGCGCCCGCCGCGCCCGCGCCGCCCCCACCGCTGCTCGGCTTC       c.960
 T  L  P  F  P  L  A  P  A  A  P  A  P  P  P  P  L  L  G  F         p.320

          .         .         .         .         .         .       g.9098
 TCCGGGGCCCTCGCCTACCCGCTGGCCGCCTTCCCGGCCGCCGCCTCCGTGCCCTTTCTG       c.1020
 S  G  A  L  A  Y  P  L  A  A  F  P  A  A  A  S  V  P  F  L         p.340

          .         .                                               g.9125
 CGGGCGCAGATGCCTGGCCTGGTGTGA                                        c.1047
 R  A  Q  M  P  G  L  V  X                                          p.348

          .         .         .         .         .         .       g.9185
 gccccgcctgccgggccctctccccacgaccctgtggacctgtgtggacgcgcgattcag       c.*60

          .         .         .         .         .         .       g.9245
 cggcaggcgcagggctcagggggcgttagggaagggatggtcgctcctgcggcctcctag       c.*120

          .         .         .         .         .         .       g.9305
 atacctcgggagcgcaggccgcggccgggcgggcctcagcttctgtggggagcgcctcta       c.*180

          .         .         .         .         .         .       g.9365
 gaatgtaatgggacgccccacccatttgccaggctggatccccactcgaacagggggcca       c.*240

          .         .         .         .         .         .       g.9425
 tgcagagactctgggctgcgcagcccccggcgccacggccaccccccggcctcagcgagg       c.*300

          .         .         .         .         .         .       g.9485
 agcggtcggccatggccacccggggcagctgccctcaggccaagcccagcgcaacaaagg       c.*360

          .         .         .         .         .         .       g.9545
 aaaactacgaaccggctgtccaaggctgagcggtgactgtccccacagactgcccccaac       c.*420

          .         .         .         .         .         .       g.9605
 actaaacgtccctttcctgggacccagacagcaggccggcccggagggctgtgctacccc       c.*480

          .         .         .         .         .         .       g.9665
 tctcgcgggtgctggtggagaaaggaccctggacctgtgggtcccatcgtccgttccagg       c.*540

          .         .         .         .         .         .       g.9725
 agcaggcaggctggggctctctgcagacgtcgcagcctccgggttgttgtttttttaaat       c.*600

          .         .         .         .                           g.9771
 gaatctacttatttgcgtatggaataaaaagggacattttctggac                     c.*646

 (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 H6 family homeobox 1 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.