ladybird homeobox 1 (LBX1) - coding DNA reference sequence

(used for variant description)

(last modified October 18, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_006562.4 in the LBX1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000010.10, covering LBX1 transcript NM_006562.4.

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

 (upstream sequence)
                                         .         .                g.5025
                                    ggccccgcgcccggcccgcgccctg       c.-121

 .         .         .         .         .         .                g.5085
 cccagtgcggcctcctttccacccgccgctgcctgcccgcgccgtccggcgcccgagctg       c.-61

 .         .         .         .         .         .                g.5145
 cccgcgggctgggtccccgcggcccgagccgccccggccgggaccccgaacaaggccgag       c.-1

          .         .         .         .         .         .       g.5205
 ATGACTTCCAAGGAGGACGGCAAGGCGGCGCCGGGGGAGGAGCGGCGGCGCAGCCCGCTG       c.60
 M  T  S  K  E  D  G  K  A  A  P  G  E  E  R  R  R  S  P  L         p.20

          .         .         .         .         .         .       g.5265
 GACCACCTGCCTCCGCCTGCCAACTCCAACAAGCCACTGACGCCGTTCAGCATCGAGGAC       c.120
 D  H  L  P  P  P  A  N  S  N  K  P  L  T  P  F  S  I  E  D         p.40

          .         .         .         .         .         .       g.5325
 ATCCTCAACAAGCCGTCTGTGCGGAGAAGTTACTCGCTGTGCGGGGCGGCGCACCTGCTG       c.180
 I  L  N  K  P  S  V  R  R  S  Y  S  L  C  G  A  A  H  L  L         p.60

          .         .         .         .         .         .       g.5385
 GCCGCCGCGGACAAGCACGCGCAGGGCGGCTTGCCCCTGGCGGGCCGCGCGCTGCTCTCG       c.240
 A  A  A  D  K  H  A  Q  G  G  L  P  L  A  G  R  A  L  L  S         p.80

          .         .         .         .         .         .       g.5445
 CAGACCTCGCCGCTGTGCGCGCTGGAGGAGCTCGCCAGCAAGACGTTTAAGGGGCTGGAG       c.300
 Q  T  S  P  L  C  A  L  E  E  L  A  S  K  T  F  K  G  L  E         p.100

          .         .      | 02  .         .         .         .    g.6205
 GTCAGCGTTCTGCAGGCAGCCGAAG | GCCGCGACGGTATGACCATCTTTGGGCAGCGGCAG    c.360
 V  S  V  L  Q  A  A  E  G |   R  D  G  M  T  I  F  G  Q  R  Q      p.120

          .         .         .         .         .         .       g.6265
 ACCCCTAAGAAGCGGCGAAAGTCGCGCACGGCCTTCACCAACCACCAGATCTATGAATTG       c.420
 T  P  K  K  R  R  K  S  R  T  A  F  T  N  H  Q  I  Y  E  L         p.140

          .         .         .         .         .         .       g.6325
 GAAAAGCGCTTTCTATACCAGAAGTACCTGTCCCCCGCCGATCGCGACCAAATCGCGCAG       c.480
 E  K  R  F  L  Y  Q  K  Y  L  S  P  A  D  R  D  Q  I  A  Q         p.160

          .         .         .         .         .         .       g.6385
 CAGCTGGGCCTCACCAACGCGCAAGTCATCACCTGGTTCCAGAATCGGCGCGCTAAGCTC       c.540
 Q  L  G  L  T  N  A  Q  V  I  T  W  F  Q  N  R  R  A  K  L         p.180

          .         .         .         .         .         .       g.6445
 AAGCGGGACCTGGAGGAGATGAAGGCCGACGTAGAGTCCGCCAAGAAACTGGGCCCCAGC       c.600
 K  R  D  L  E  E  M  K  A  D  V  E  S  A  K  K  L  G  P  S         p.200

          .         .         .         .         .         .       g.6505
 GGGCAGATGGACATCGTGGCGCTGGCCGAACTCGAGCAGAACTCGGAGGCCACAGCCGGC       c.660
 G  Q  M  D  I  V  A  L  A  E  L  E  Q  N  S  E  A  T  A  G         p.220

          .         .         .         .         .         .       g.6565
 GGTGGCGGCGGCTGCGGCAGGGCCAAGTCGAGGCCCGGCTCTCCGGTCCTCCCCCCAGGC       c.720
 G  G  G  G  C  G  R  A  K  S  R  P  G  S  P  V  L  P  P  G         p.240

          .         .         .         .         .         .       g.6625
 GCCCCGAAGGCCCCGGGCGCTGGCGCCCTGCAGCTCTCGCCTGCCTCTCCGCTCACGGAC       c.780
 A  P  K  A  P  G  A  G  A  L  Q  L  S  P  A  S  P  L  T  D         p.260

          .         .         .         .         .         .       g.6685
 CAGCCGGCCAGCAGCCAGGACTGCTCGGAGGACGAGGAAGACGAAGAGATCGACGTGGAC       c.840
 Q  P  A  S  S  Q  D  C  S  E  D  E  E  D  E  E  I  D  V  D         p.280

                                                                    g.6691
 GATTGA                                                             c.846
 D  X                                                               p.281

          .         .         .         .         .         .       g.6751
 gcggcgccccgggtcttccgccgccctgggctcctagcgctcgaaagcccaacgcctccc       c.*60

          .         .         .         .         .         .       g.6811
 ggaccggaccgccgaggggagctgggacctcctctgccaactcccgcctcctcccctgtc       c.*120

          .         .         .         .         .         .       g.6871
 cccggccccggactcggctcctggcagccgcctcttccctctcgaagcaataaacccagg       c.*180

          .         .         .         .         .         .       g.6931
 ctggccggccgggccggccgccaccagcggcctccgccgccccggaagccctcgccgtgc       c.*240

          .         .         .         .         .                 g.6985
 aattctgtatggcttctatataaatatttaaacctatatagcgggttcttccca             c.*294

 (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 Ladybird 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.