Sarcoglycan gamma (SGCG) - coding DNA reference sequence

(used for mutation description)

(last modified January 23, 2010)

This file was created to facilitate the description of sequence variants in the SGCG gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008759.1, covering SGCG transcript NM_000231.2. Some transcripts contain an alternatively splice exon 01b (probably non-coding).

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                               .         .         .                g.5035
                          gaaactcgtgagagccctttctccagggacagttg       c.-121

 .         .         .         .         .         .                g.5095
 ctgaagcttcatcctttgctctcattctgtaagtcatagaaaagtttgaaacattctgtc       c.-61

 .         .         .         .         .         .                g.5155
 tgtggtagagctcgggccagctgtagttcattcgccagtgtgcttttcttaatatctaag       c.-1

  | 02       .         .         .         .         .         .    g.27834
  | ATGGTGCGTGAGCAGTACACTACAGCCACAGAAGGCATCTGCATAGAGAGGCCAGAGAAT    c.60
  | M  V  R  E  Q  Y  T  T  A  T  E  G  I  C  I  E  R  P  E  N      p.20
  ^  intron contains alternatively spliced exon 01b

          .         .         .         .         .         .       g.27894
 CAGTATGTCTACAAAATTGGCATTTATGGCTGGAGAAAGCGCTGTCTCTACTTGTTTGTT       c.120
 Q  Y  V  Y  K  I  G  I  Y  G  W  R  K  R  C  L  Y  L  F  V         p.40

          .         .         .         .         .         .       g.27954
 CTTCTTTTACTCATCATCCTCGTTGTGAATTTAGCTCTTACAATTTGGATTCTTAAAGTG       c.180
 L  L  L  L  I  I  L  V  V  N  L  A  L  T  I  W  I  L  K  V         p.60

          .      | 03  .         .         .         .         .    g.58735
 ATGTGGTTTTCTCCA | GCAGGAATGGGCCACTTGTGTGTAACAAAAGATGGACTGCGCTTG    c.240
 M  W  F  S  P   | A  G  M  G  H  L  C  V  T  K  D  G  L  R  L      p.80

          .         .         .         .         .        | 04.    g.74712
 GAAGGGGAATCAGAATTTTTATTCCCATTGTATGCCAAAGAAATACACTCCAGAGTG | GAC    c.300
 E  G  E  S  E  F  L  F  P  L  Y  A  K  E  I  H  S  R  V   | D      p.100

          .         .         .         .         .         .       g.74772
 TCATCTCTGCTTCTACAATCAACCCAGAATGTGACTGTAAATGCGCGCAACTCAGAAGGG       c.360
 S  S  L  L  L  Q  S  T  Q  N  V  T  V  N  A  R  N  S  E  G         p.120

          .         .      | 05  .         .         .         .    g.103473
 GAGGTCACAGGCAGGTTAAAAGTCG | GTCCCAAAATGGTAGAAGTCCAGAATCAACAGTTT    c.420
 E  V  T  G  R  L  K  V  G |   P  K  M  V  E  V  Q  N  Q  Q  F      p.140

          .         .         .         .         .         .       g.103533
 CAGATCAACTCCAACGACGGCAAGCCACTATTTACTGTAGATGAGAAGGAAGTTGTGGTT       c.480
 Q  I  N  S  N  D  G  K  P  L  F  T  V  D  E  K  E  V  V  V         p.160

          .         .      | 06  .         .         .         .    g.119529
 GGTACAGATAAACTTCGAGTAACTG | GGCCTGAAGGGGCTCTTTTTGAACATTCAGTGGAG    c.540
 G  T  D  K  L  R  V  T  G |   P  E  G  A  L  F  E  H  S  V  E      p.180

          .         .         .         | 07         .         .    g.144738
 ACACCCCTTGTCAGAGCCGACCCGTTTCAAGACCTTAG | ATTAGAATCCCCCACTCGGAGT    c.600
 T  P  L  V  R  A  D  P  F  Q  D  L  R  |  L  E  S  P  T  R  S      p.200

          .         .         .         .         .         .       g.144798
 CTAAGCATGGATGCCCCAAGGGGTGTGCATATTCAAGCTCACGCTGGGAAAATTGAGGCG       c.660
 L  S  M  D  A  P  R  G  V  H  I  Q  A  H  A  G  K  I  E  A         p.220

          .         .         .         .   | 08     .         .    g.148465
 CTTTCTCAAATGGATATTCTTTTTCATAGTAGTGATGGAATG | CTTGTGCTTGATGCTGAA    c.720
 L  S  Q  M  D  I  L  F  H  S  S  D  G  M   | L  V  L  D  A  E      p.240

          .         .         .         .         .         .       g.148525
 ACTGTGTGCTTACCCAAGCTGGTGCAGGGGACGTGGGGTCCCTCTGGCAGCTCACAGAGC       c.780
 T  V  C  L  P  K  L  V  Q  G  T  W  G  P  S  G  S  S  Q  S         p.260

          .         .         .         .         .         .       g.148585
 CTCTACGAAATCTGTGTGTGTCCAGATGGGAAGCTGTACCTGTCTGTGGCCGGTGTGAGC       c.840
 L  Y  E  I  C  V  C  P  D  G  K  L  Y  L  S  V  A  G  V  S         p.280

          .         .         .                                     g.148621
 ACCACGTGCCAGGAGCACAGCCACATCTGCCTCTGA                               c.876
 T  T  C  Q  E  H  S  H  I  C  L  X                                 p.291

          .         .         .         .         .         .       g.148681
 gctgcctgcgtcctctcggtgagctgtgcagtgccggccccagatcctcacacccaggga       c.*60

          .         .         .         .         .         .       g.148741
 gcagctgcacatcgtgaaagactgaggcagcgtggatgggaagtaaacgcttccagagga       c.*120

          .         .         .         .         .         .       g.148801
 actcagaaaaaattatgtgccagtgaaagtgtttggacaaaaactacatgatctcaaaat       c.*180

          .         .         .         .         .         .       g.148861
 gcacgtggatgtgagacacaaaagttgacaaaatggaaaagcaatgtgtttttccactgg       c.*240

          .         .         .         .         .         .       g.148921
 attaattttcaccggaacaattgcgaattctctctgcctcgcctccccctatcttgtccg       c.*300

          .         .         .         .         .         .       g.148981
 tgtgggcacacactgagtgttgagttgccgtgtggagttaatgtatgacgctccactgtg       c.*360

          .         .         .         .         .         .       g.149041
 gatatctaatgccctgttgagagtagccttgctcagtactaaaatgccccaaagttctat       c.*420

          .         .         .         .         .         .       g.149101
 acagcatttcctttatagcattcaaacctcacatcctcccttcagtttaatgcaagtaag       c.*480

          .         .         .         .         .         .       g.149161
 tcaggtttcacaagaaaattttcaagttttgaagggaatttgaggttgatctggttttca       c.*540

          .         .         .         .         .         .       g.149221
 agatgtagttaaaggaataaatcactcaaaattaaactttctgtatatagtcaataagca       c.*600

          .         .                                               g.149245
 ataaaaacctcatttttcagagtt                                           c.*624

 (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 10th nucleotide is indicated by a "." above the sequence. The Sarcoglycan gamma protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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