radial spoke head 9 homolog (Chlamydomonas) (RSPH9) - coding DNA reference sequence

(used for variant description)

(last modified February 21, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_152732.4 in the RSPH9 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering RSPH9 transcript NM_152732.4.

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

 (upstream sequence)
                                                                    g.5009
                                                    agcttcagg       c.-61

 .         .         .         .         .         .                g.5069
 tctccatggaggcggcttctcctagcaactcgacgggcgttgagcggagccgctgacctg       c.-1

          .         .         .         .         .         .       g.5129
 ATGGACGCCGACAGCCTCCTGCTGTCTCTGGAGCTGGCGTCCGGCAGTGGGCAGGGCCTC       c.60
 M  D  A  D  S  L  L  L  S  L  E  L  A  S  G  S  G  Q  G  L         p.20

          .         .         .         .         .         .       g.5189
 AGCCCGGACCGTCGGGCCTCGCTGCTCACGTCTCTTATGCTGGTTAAGCGCGACTACCGC       c.120
 S  P  D  R  R  A  S  L  L  T  S  L  M  L  V  K  R  D  Y  R         p.40

          .         .         .         .         .         .       g.5249
 TATGATCGGGTTCTCTTCTGGGGCCGCATCCTTGGCCTCGTCGCCGATTACTACATCGCG       c.180
 Y  D  R  V  L  F  W  G  R  I  L  G  L  V  A  D  Y  Y  I  A         p.60

          .         .         .         .        | 02.         .    g.10358
 CAGGGCCTGAGTGAGGACCAGCTCGCACCGCGCAAGACGCTCTATAG | CCTGAACTGCACA    c.240
 Q  G  L  S  E  D  Q  L  A  P  R  K  T  L  Y  S  |  L  N  C  T      p.80

          .         .         .         .         .         .       g.10418
 GAGTGGAGCCTCTTGCCCCCTGCCACAGAGGAGATGGTGGCGCAGTCGTCTGTGGTGAAG       c.300
 E  W  S  L  L  P  P  A  T  E  E  M  V  A  Q  S  S  V  V  K         p.100

          .         .         .         .         .         .       g.10478
 GGCCGCTTCATGGGGGACCCATCATACGAATATGAACACACTGAGCTGCAGAAGGTGAAT       c.360
 G  R  F  M  G  D  P  S  Y  E  Y  E  H  T  E  L  Q  K  V  N         p.120

          .         .         .    | 03    .         .         .    g.15559
 GAAGGTGAAAAAGTCTTTGAAGAAGAAATAGTG | GTCCAGATCAAGGAAGAGACCCGCTTG    c.420
 E  G  E  K  V  F  E  E  E  I  V   | V  Q  I  K  E  E  T  R  L      p.140

          .         .         .         .         .         .       g.15619
 GTGTCTGTCATTGACCAGATTGACAAGGCTGTGGCCATCATCCCCCGAGGCGCCCTCTTC       c.480
 V  S  V  I  D  Q  I  D  K  A  V  A  I  I  P  R  G  A  L  F         p.160

          .         .         .         .    | 04    .         .    g.16564
 AAGACCCCTTTTGGACCCACCCATGTCAATCGGACCTTTGAAG | GACTGTCCTTGTCTGAG    c.540
 K  T  P  F  G  P  T  H  V  N  R  T  F  E  G |   L  S  L  S  E      p.180

          .         .         .         .         .         .       g.16624
 GCCAAGAAGCTCAGCTCCTACTTCCATTTCAGGGAGCCTGTTGAGCTAAAGAATAAGACC       c.600
 A  K  K  L  S  S  Y  F  H  F  R  E  P  V  E  L  K  N  K  T         p.200

          .         .         .         .         .         .       g.16684
 TTGCTTGAGAAGGCTGACCTGGACCCCTCCCTGGATTTCATGGACTCCTTGGAGCATGAC       c.660
 L  L  E  K  A  D  L  D  P  S  L  D  F  M  D  S  L  E  H  D         p.220

          . | 05       .         .         .         .         .    g.30809
 ATTCCCAAAG | GGTCCTGGAGCATCCAGATGGAGAGGGGCAATGCCCTGGTGGTGCTGCGC    c.720
 I  P  K  G |   S  W  S  I  Q  M  E  R  G  N  A  L  V  V  L  R      p.240

          .         .         .         .         .         .       g.30869
 AGCCTGCTCTGGCCGGGCCTCACCTTCTACCATGCTCCCCGCACCAAGAACTATGGCTAC       c.780
 S  L  L  W  P  G  L  T  F  Y  H  A  P  R  T  K  N  Y  G  Y         p.260

          .         .         .         .         .                 g.30920
 GTCTACGTGGGCACTGGCGAGAAGAACATGGACTTGCCCTTCATGCTATAG                c.831
 V  Y  V  G  T  G  E  K  N  M  D  L  P  F  M  L  X                  p.276

          .         .         .         .         .         .       g.30980
 aatgggagccagcctggatgtttttaaacagagtctaaacatgattttcttaagcttcag       c.*60

                                                                    g.30982
 tg                                                                 c.*62

 (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 Radial spoke head 9 homolog (Chlamydomonas) 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.