SRY (sex determining region Y)-box 18 (SOX18) - coding DNA reference sequence

(used for variant description)

(last modified May 11, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_018419.2 in the SOX18 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008095.1, covering SOX18 transcript NM_018419.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5050
           ccgccatccgccctcccggcctggcctgcccttgcgcccggctccccagt       c.-61

 .         .         .         .         .         .                g.5110
 gcccgccgcccgcccgccgcgctcccgcgctccgttccgcccaggccgcgcccagctgga       c.-1

          .         .         .         .         .         .       g.5170
 ATGCAGAGATCGCCGCCCGGCTACGGCGCACAGGACGACCCGCCCGCCCGCCGCGACTGT       c.60
 M  Q  R  S  P  P  G  Y  G  A  Q  D  D  P  P  A  R  R  D  C         p.20

          .         .         .         .         .         .       g.5230
 GCATGGGCCCCGGGACACGGGGCCGCCGCTGACACGCGCGGCCTCGCCGCCGGCCCCGCC       c.120
 A  W  A  P  G  H  G  A  A  A  D  T  R  G  L  A  A  G  P  A         p.40

          .         .         .         .         .         .       g.5290
 GCCCTCGCCGCGCCCGCCGCGCCCGCCTCGCCGCCCAGCCCGCAGCGCAGTCCCCCGCGC       c.180
 A  L  A  A  P  A  A  P  A  S  P  P  S  P  Q  R  S  P  P  R         p.60

          .         .         .         .         .         .       g.5350
 AGCCCCGAGCCGGGGCGCTATGGCCTCAGCCCGGCCGGCCGCGGGGAACGCCAGGCGGCA       c.240
 S  P  E  P  G  R  Y  G  L  S  P  A  G  R  G  E  R  Q  A  A         p.80

          .         .         .         .         .         .       g.5410
 GACGAGTCGCGCATCCGGCGGCCCATGAACGCCTTCATGGTGTGGGCAAAGGACGAGCGC       c.300
 D  E  S  R  I  R  R  P  M  N  A  F  M  V  W  A  K  D  E  R         p.100

          .         .         .         .         .         | 02    g.5666
 AAGCGGCTGGCTCAGCAGAACCCGGACCTGCACAACGCGGTGCTCAGCAAGATGCTGG | GC    c.360
 K  R  L  A  Q  Q  N  P  D  L  H  N  A  V  L  S  K  M  L  G |       p.120

          .         .         .         .         .         .       g.5726
 AAAGCGTGGAAGGAGCTGAACGCGGCGGAGAAGCGGCCCTTCGTGGAGGAAGCCGAACGG       c.420
 K  A  W  K  E  L  N  A  A  E  K  R  P  F  V  E  E  A  E  R         p.140

          .         .         .         .         .         .       g.5786
 CTGCGCGTGCAGCACTTGCGCGACCACCCCAACTACAAGTACCGGCCGCGCCGCAAGAAG       c.480
 L  R  V  Q  H  L  R  D  H  P  N  Y  K  Y  R  P  R  R  K  K         p.160

          .         .         .         .         .         .       g.5846
 CAGGCGCGCAAGGCCCGGCGGCTGGAGCCCGGCCTCCTGCTCCCGGGATTAGCGCCCCCG       c.540
 Q  A  R  K  A  R  R  L  E  P  G  L  L  L  P  G  L  A  P  P         p.180

          .         .         .         .         .         .       g.5906
 CAGCCACCGCCCGAGCCTTTCCCCGCGGCGTCTGGCTCGGCTCGCGCCTTCCGCGAGCTG       c.600
 Q  P  P  P  E  P  F  P  A  A  S  G  S  A  R  A  F  R  E  L         p.200

          .         .         .         .         .         .       g.5966
 CCCCCGCTGGGCGCCGAGTTCGACGGCCTGGGGCTGCCCACGCCCGAGCGCTCGCCTCTG       c.660
 P  P  L  G  A  E  F  D  G  L  G  L  P  T  P  E  R  S  P  L         p.220

          .         .         .         .         .         .       g.6026
 GACGGCCTGGAGCCCGGCGAGGCTGCCTTCTTCCCACCGCCCGCGGCGCCCGAGGACTGC       c.720
 D  G  L  E  P  G  E  A  A  F  F  P  P  P  A  A  P  E  D  C         p.240

          .         .         .         .         .         .       g.6086
 GCGCTGCGGCCCTTCCGCGCGCCCTACGCGCCCACCGAGTTGTCGCGGGACCCCGGCGGT       c.780
 A  L  R  P  F  R  A  P  Y  A  P  T  E  L  S  R  D  P  G  G         p.260

          .         .         .         .         .         .       g.6146
 TGCTACGGGGCTCCCCTGGCGGAGGCGCTCAGGACCGCGCCCCCCGCGGCGCCGCTCGCT       c.840
 C  Y  G  A  P  L  A  E  A  L  R  T  A  P  P  A  A  P  L  A         p.280

          .         .         .         .         .         .       g.6206
 GGCCTGTACTACGGCACCCTGGGCACGCCCGGCCCGTACCCCGGCCCGCTGTCGCCGCCG       c.900
 G  L  Y  Y  G  T  L  G  T  P  G  P  Y  P  G  P  L  S  P  P         p.300

          .         .         .         .         .         .       g.6266
 CCCGAGGCCCCGCCGCTGGAGAGCGCCGAGCCGCTGGGGCCCGCCGCCGATCTGTGGGCC       c.960
 P  E  A  P  P  L  E  S  A  E  P  L  G  P  A  A  D  L  W  A         p.320

          .         .         .         .         .         .       g.6326
 GACGTGGACCTCACCGAGTTCGACCAGTACCTCAACTGCAGCCGGACTCGGCCCGACGCC       c.1020
 D  V  D  L  T  E  F  D  Q  Y  L  N  C  S  R  T  R  P  D  A         p.340

          .         .         .         .         .         .       g.6386
 CCCGGGCTCCCGTACCACGTGGCACTGGCCAAACTGGGCCCGCGCGCCATGTCCTGCCCA       c.1080
 P  G  L  P  Y  H  V  A  L  A  K  L  G  P  R  A  M  S  C  P         p.360

          .         .         .         .         .         .       g.6446
 GAGGAGAGCAGCCTGATCTCCGCGCTGTCGGACGCCAGCAGCGCGGTCTATTACAGCGCG       c.1140
 E  E  S  S  L  I  S  A  L  S  D  A  S  S  A  V  Y  Y  S  A         p.380

          .                                                         g.6461
 TGCATCTCCGGCTAG                                                    c.1155
 C  I  S  G  X                                                      p.384

          .         .         .         .         .         .       g.6521
 gccgccggcgccgcccgggtccctgcagcgcttcctcccgcagcccccgcgaccgatccg       c.*60

          .         .         .         .         .         .       g.6581
 accgcgtcgctgccgctctgctctctcatacgcgtgtatgtttggttccatgtcacagcc       c.*120

          .         .         .         .         .         .       g.6641
 ccctaggagccagtgatgctcggccttgcgcccgttccacctcccaggccacccttcctg       c.*180

          .         .         .         .         .         .       g.6701
 ggcttctgggccacctgccctcggggggcccctgcgagggtgcctggagttcccacgtgt       c.*240

          .         .         .         .         .         .       g.6761
 cccggggcttttccaggaagcccgagcccaggacctgttggcagagttgccagggttaca       c.*300

          .         .         .         .         .         .       g.6821
 tttttgaagcacctgctccttttcttgcagtgtattttctacaaccagattgtattaata       c.*360

          .         .         .         .         .         .       g.6881
 ttttttactttgcccttttaaaaaatatacctaatacaatatatttaatttttaattaaa       c.*420

          .         .                                               g.6901
 ctcttaaacttttcttccaa                                               c.*440

 (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 SRY (sex determining region Y)-box 18 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.