signal sequence receptor, delta (SSR4) - coding DNA reference sequence

(used for variant description)

(last modified July 24, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_006280.2 in the SSR4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering SSR4 transcript NM_006280.2.

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

 (upstream sequence)
                                                                    g.5393
                                                         acaa       c.-121

 .         .         .         .         .         .                g.5453
 tgccggcccagccgttcggtgcgcgattggctgccgctgccacttacgcgtcgctcttcc       c.-61

 .         .         .         .         .         .                g.5513
 tcgtttgcccctcgtgttcatgggagctcgttttcttttcctctaggcagagaagaggcg       c.-1

          .         .         .         .         .         .       g.5573
 ATGGCGGCGATGGCATCTCTCGGCGCCCTGGCGCTGCTCCTGCTGTCCAGCCTCTCCCGC       c.60
 M  A  A  M  A  S  L  G  A  L  A  L  L  L  L  S  S  L  S  R         p.20

         | 02.         .         .         .         .         .    g.7312
 TGCTCAG | CCGAGGCCTGCCTGGAGCCCCAGATCACCCCTTCCTACTACACCACTTCTGAC    c.120
 C  S  A |   E  A  C  L  E  P  Q  I  T  P  S  Y  Y  T  T  S  D      p.40

          .         .         .         .         .         .       g.7372
 GCTGTCATTTCCACTGAGACCGTCTTCATTGTGGAGATCTCCCTGACATGCAAGAACAGG       c.180
 A  V  I  S  T  E  T  V  F  I  V  E  I  S  L  T  C  K  N  R         p.60

        | 03 .         .         .         .         .         .    g.8337
 GTCCAG | AACATGGCTCTCTATGCTGACGTCGGTGGAAAACAATTCCCTGTCACTCGAGGC    c.240
 V  Q   | N  M  A  L  Y  A  D  V  G  G  K  Q  F  P  V  T  R  G      p.80

          .         .  | 04      .         .         .         .    g.8589
 CAGGATGTGGGGCGTTATCAG | GTGTCCTGGAGCCTGGACCACAAGAGCGCCCACGCAGGC    c.300
 Q  D  V  G  R  Y  Q   | V  S  W  S  L  D  H  K  S  A  H  A  G      p.100

          .         .         .         .         .  | 05      .    g.8905
 ACCTATGAGGTTAGATTCTTCGACGAGGAGTCCTACAGCCTCCTCAGGAAG | GCTCAGAGG    c.360
 T  Y  E  V  R  F  F  D  E  E  S  Y  S  L  L  R  K   | A  Q  R      p.120

          .         .         .         .         .        | 06.    g.9157
 AATAACGAGGACATTTCCATCATCCCGCCTCTGTTTACAGTCAGCGTGGACCATCGG | GGC    c.420
 N  N  E  D  I  S  I  I  P  P  L  F  T  V  S  V  D  H  R   | G      p.140

          .         .         .         .         .         .       g.9217
 ACTTGGAACGGGCCCTGGGTGTCCACTGAGGTGCTGGCTGCGGCGATCGGCCTTGTGATC       c.480
 T  W  N  G  P  W  V  S  T  E  V  L  A  A  A  I  G  L  V  I         p.160

          .         .         .         .                           g.9259
 TACTACTTGGCCTTCAGTGCGAAGAGCCACATCCAGGCCTGA                         c.522
 Y  Y  L  A  F  S  A  K  S  H  I  Q  A  X                           p.173

          .         .         .         .         .         .       g.9319
 gggcggcaccccagccctgcccttgcttccttcaataaacatcacaggacctgggactgc       c.*60

          .                                                         g.9338
 acaggacctggggctgctg                                                c.*79

 (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 Signal sequence receptor, delta 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.