steroidogenic acute regulatory protein (STAR) - coding DNA reference sequence

(used for variant description)

(last modified May 3, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_000349.2 in the STAR gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011827.1, covering STAR transcript NM_000349.2.

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

 (upstream sequence)
                                         .         .                g.5024
                                     gcagtgtgaggcaatcgctctatc       c.-241

 .         .         .         .         .         .                g.5084
 cttgaccccttcctttgcacagtgagtgatggcgtttttatctcctgatgatgatgcaca       c.-181

 .         .         .         .         .         .                g.5144
 gccttcagcgggggacatttaagacgcagaacaccaggtccaggctgcagctgcgggact       c.-121

 .         .         .         .         .         .                g.5204
 cagaggcgaagcttgaggggctcaggaaggacgaagaaccacccttgagagaagaggcag       c.-61

 .         .         .         .         .         .                g.5264
 cagcagcggcggcagcagcagcggcagcgaccccaccactgccacatttgccaggaaaca       c.-1

          .         .         .         .         .         .       g.5324
 ATGCTGCTAGCGACATTCAAGCTGTGCGCTGGGAGCTCCTACAGACACATGCGCAACATG       c.60
 M  L  L  A  T  F  K  L  C  A  G  S  S  Y  R  H  M  R  N  M         p.20

      | 02   .         .         .         .         .         .    g.7384
 AAGG | GGCTGAGGCAACAGGCTGTGATGGCCATCAGCCAGGAGCTGAACCGGAGGGCCCTG    c.120
 K  G |   L  R  Q  Q  A  V  M  A  I  S  Q  E  L  N  R  R  A  L      p.40

          .         .         .         .         .         | 03    g.7757
 GGGGGCCCCACCCCTAGCACGTGGATTAACCAGGTTCGGCGGCGGAGCTCTCTACTCG | GT    c.180
 G  G  P  T  P  S  T  W  I  N  Q  V  R  R  R  S  S  L  L  G |       p.60

          .         .         .         .         .         .       g.7817
 TCTCGGCTGGAAGAGACTCTCTACAGTGACCAGGAGCTGGCCTATCTCCAGCAGGGGGAG       c.240
 S  R  L  E  E  T  L  Y  S  D  Q  E  L  A  Y  L  Q  Q  G  E         p.80

          .         .         .         .         .         .       g.7877
 GAGGCCATGCAGAAGGCCTTGGGCATCCTTAGCAACCAAGAGGGCTGGAAGAAGGAGAGT       c.300
 E  A  M  Q  K  A  L  G  I  L  S  N  Q  E  G  W  K  K  E  S         p.100

        | 04 .         .         .         .         .         .    g.9689
 CAGCAG | GACAATGGGGACAAAGTGATGAGTAAAGTGGTCCCAGATGTGGGCAAGGTGTTC    c.360
 Q  Q   | D  N  G  D  K  V  M  S  K  V  V  P  D  V  G  K  V  F      p.120

          .         .         .         .         .         .       g.9749
 CGGCTGGAGGTCGTGGTGGACCAGCCCATGGAGAGGCTCTATGAAGAGCTCGTGGAGCGC       c.420
 R  L  E  V  V  V  D  Q  P  M  E  R  L  Y  E  E  L  V  E  R         p.140

          .         .         .         .      | 05  .         .    g.9950
 ATGGAAGCAATGGGGGAGTGGAACCCCAATGTCAAGGAGATCAAG | GTCCTGCAGAAGATC    c.480
 M  E  A  M  G  E  W  N  P  N  V  K  E  I  K   | V  L  Q  K  I      p.160

          .         .         .         .         .         .       g.10010
 GGAAAAGATACATTCATTACTCACGAGCTGGCTGCCGAGGCAGCAGGAAACCTGGTGGGG       c.540
 G  K  D  T  F  I  T  H  E  L  A  A  E  A  A  G  N  L  V  G         p.180

          .         .         .         .         .         .       g.10070
 CCCCGTGACTTTGTGAGCGTGCGCTGTGCCAAGCGCCGAGGCTCCACCTGTGTGCTGGCT       c.600
 P  R  D  F  V  S  V  R  C  A  K  R  R  G  S  T  C  V  L  A         p.200

          .         .         .         .         . | 06       .    g.10777
 GGCATGGCCACAGACTTCGGGAACATGCCTGAGCAGAAGGGTGTCATCAG | GGCGGAGCAC    c.660
 G  M  A  T  D  F  G  N  M  P  E  Q  K  G  V  I  R  |  A  E  H      p.220

          .         .         .         .         .         .       g.10837
 GGTCCCACTTGCATGGTGCTTCACCCGTTGGCTGGAAGTCCCTCTAAGACCAAACTTACG       c.720
 G  P  T  C  M  V  L  H  P  L  A  G  S  P  S  K  T  K  L  T         p.240

          .         .     | 07   .         .         .         .    g.11732
 TGGCTACTCAGCATCGACCTCAAG | GGGTGGCTGCCCAAGAGCATCATCAACCAGGTCCTG    c.780
 W  L  L  S  I  D  L  K   | G  W  L  P  K  S  I  I  N  Q  V  L      p.260

          .         .         .         .         .         .       g.11792
 TCCCAGACCCAGGTGGATTTTGCCAACCACCTGCGCAAGCGCCTGGAGTCCCACCCTGCC       c.840
 S  Q  T  Q  V  D  F  A  N  H  L  R  K  R  L  E  S  H  P  A         p.280

          .                                                         g.11810
 TCTGAAGCCAGGTGTTGA                                                 c.858
 S  E  A  R  C  X                                                   p.285

          .         .         .         .         .         .       g.11870
 agaccagcctgctgttcccaactgtgcccagctgcactggtacacacgctcatcaggaga       c.*60

          .         .         .         .         .         .       g.11930
 atccctactggaagcctgcaagtctaagatctccatctggtgacagtgggatgggtgggg       c.*120

          .         .         .         .         .         .       g.11990
 ttcgtgtttagagtatgacactaggattcagattggtgaaagtttttagtaccaagaaaa       c.*180

          .         .         .         .         .         .       g.12050
 cagggatgaggctcttggattaaaaggtaacttcattcactgattagctatgacatgagg       c.*240

          .         .         .         .         .         .       g.12110
 gttcaggcccctaaaataattgtaaaactttttttctgggcccttatgtacccacctaaa       c.*300

          .         .         .         .         .         .       g.12170
 accatctttaaaatgctagtggctgatatgggtgtgggggatgctaaccacagggcctga       c.*360

          .         .         .         .         .         .       g.12230
 gaagtcttgctttatgggctcaagaatgccatgcgctggcagtacatgtgcacaaagcag       c.*420

          .         .         .         .         .         .       g.12290
 aatctcagagggtctcctgcagccctctgctcctcccggccgctgcacagcaacaccaca       c.*480

          .         .         .         .         .         .       g.12350
 gaacaagcagcaccccacagtgggtgccttccagaaatatagtccaagctttctctgtgg       c.*540

          .         .         .         .         .         .       g.12410
 aaaaagacaaaactcattagtagacatgtttccctattgctttcataggcaccagtcaga       c.*600

          .         .         .         .         .         .       g.12470
 ataaagaatcataattcacacaaacatcagtctttgttttaatattgtactgttaaaaaa       c.*660

          .         .         .         .         .         .       g.12530
 atctatgcagctgggtgcagtggctcacgcctgtaatcccagcattttgggaggctgagg       c.*720

          .         .         .         .         .         .       g.12590
 taggcggatcacaaggtcaggagatcgagaccatcctggccaacatggtgaaaccccgtc       c.*780

          .         .         .         .         .         .       g.12650
 tctactaaaatacaaaaaattagctgggtgtggtggcgcaaacctgtagtcgtagctact       c.*840

          .         .         .         .         .         .       g.12710
 tgggaggctgaggcaggggaatcacttgaaccccggaggcggaggttgtagtgggccgag       c.*900

          .         .         .         .         .         .       g.12770
 attgtgccactgcgctccagcgtgggcgacagagtgagactccatctcaaaaaaaaaaaa       c.*960

          .         .         .         .         .         .       g.12830
 aaaaaaatctatgctagtagattacaacttcacactagaggagttctggacaaagctttt       c.*1020

          .         .         .         .         .         .       g.12890
 aattagtcaaactaaattaaggctcattaaaaggaaaggaactactgggaaattatgcaa       c.*1080

          .         .         .         .         .         .       g.12950
 ttcaataatttagactctgttaccaggatctttcataaaaatttaatttccataatcata       c.*1140

          .         .         .         .         .         .       g.13010
 acctaaatgagttcttaaagaattctataagcaatagctgattaatgggccctggaagat       c.*1200

          .         .         .         .         .         .       g.13070
 gaagattataactgtttatttacctaattaaaaggaaaggcagtgccaaatatgagagga       c.*1260

          .         .         .         .         .         .       g.13130
 taaacaatattagttaacatttctgttatttatgatgccaattagtagtaagataattcc       c.*1320

          .         .         .         .         .         .       g.13190
 acagctgtcaactttgtttggggctggcaacttctctgcttaaacaggctaaaagtttag       c.*1380

          .         .         .         .         .         .       g.13250
 tattctgggagaagtggctggaagaaggggtaatatggtgaaagcaaattccctttccca       c.*1440

          .         .         .         .         .         .       g.13310
 ggagtcaagagaatttatgtgaggtggctcccgcctgtaatctcagcactttgggaggcc       c.*1500

          .         .         .         .         .         .       g.13370
 aaggcaggcaatcacctgagggcaggagaccagcctgactaacatggagaaaccccatct       c.*1560

          .                                                         g.13383
 ctactaaaaatac                                                      c.*1573

 (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 Steroidogenic acute regulatory protein 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.