rogdi homolog (Drosophila) (ROGDI) - coding DNA reference sequence

(used for variant description)

(last modified August 1, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_024589.1 in the ROGDI gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032174.1, covering ROGDI transcript NM_024589.1.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                     .         .         .         .                g.5042
                   agacgccgggggcggacgggaggaccggaggaccgaggacag       c.-61

 .         .         .         .         .         .                g.5102
 aaagattggtggacaggagcagcggccggtggggagggcgctcggcggcggcctgcggcc       c.-1

          .         .         .         .      | 02  .         .    g.5235
 ATGGCCACCGTGATGGCAGCGACGGCGGCGGAGCGGGCGGTGCTG | GAGGAGGAGTTCCGC    c.60
 M  A  T  V  M  A  A  T  A  A  E  R  A  V  L   | E  E  E  F  R      p.20

          .         .         .         .         .        | 03.    g.6091
 TGGCTGCTGCACGACGAGGTGCACGCTGTGTTGAAGCAGCTGCAGGACATCCTCAAG | GAG    c.120
 W  L  L  H  D  E  V  H  A  V  L  K  Q  L  Q  D  I  L  K   | E      p.40

          .         .         .         .         .         .       g.6151
 GCCTCTCTGCGCTTCACTCTGCCGGGCTCCGGCACTGAGGGGCCCGCCAAGCAAGAGAAC       c.180
 A  S  L  R  F  T  L  P  G  S  G  T  E  G  P  A  K  Q  E  N         p.60

          .         . | 04       .         .         .         .    g.6392
 TTCATCCTAGGCAGCTGTGG | CACAGACCAGGTGAAGGGTGTGCTGACTCTGCAGGGGGAT    c.240
 F  I  L  G  S  C  G  |  T  D  Q  V  K  G  V  L  T  L  Q  G  D      p.80

          .      | 05  .         .         .         .         .    g.7140
 GCCCTCAGCCAGGCG | GATGTGAACCTGAAGATGCCCCGGAACAACCAGCTGCTGCACTTC    c.300
 A  L  S  Q  A   | D  V  N  L  K  M  P  R  N  N  Q  L  L  H  F      p.100

          .         .         .       | 06 .         .         .    g.7916
 GCCTTCCGGGAGGACAAGCAGTGGAAGCTGCAGCAG | ATCCAGGATGCCAGAAACCATGTG    c.360
 A  F  R  E  D  K  Q  W  K  L  Q  Q   | I  Q  D  A  R  N  H  V      p.120

          .         .         .         .         .         .       g.7976
 AGCCAAGCCATTTACCTGCTTACCAGCCGGGACCAGAGCTACCAGTTCAAGACGGGCGCT       c.420
 S  Q  A  I  Y  L  L  T  S  R  D  Q  S  Y  Q  F  K  T  G  A         p.140

          .   | 07     .         .         .         .         .    g.9054
 GAGGTCCTCAAG | CTGATGGACGCAGTGATGCTGCAGCTGACCAGAGCCCGAAACCGGCTC    c.480
 E  V  L  K   | L  M  D  A  V  M  L  Q  L  T  R  A  R  N  R  L      p.160

          .         .         .         .         .  | 08      .    g.9498
 ACCACCCCCGCCACCCTCACCCTCCCCGAGATCGCCGCCAGCGGCCTCACG | CGGATGTTC    c.540
 T  T  P  A  T  L  T  L  P  E  I  A  A  S  G  L  T   | R  M  F      p.180

          .         .         .         .         .         .       g.9558
 GCCCCTGCCCTGCCGTCCGACCTGCTGGTCAACGTCTACATCAACCTCAACAAGCTCTGC       c.600
 A  P  A  L  P  S  D  L  L  V  N  V  Y  I  N  L  N  K  L  C         p.200

          .         .         .         .      | 09  .         .    g.9701
 CTCACGGTGTACCAGCTGCATGCCCTGCAGCCCAACTCCACCAAG | AACTTCCGCCCAGCT    c.660
 L  T  V  Y  Q  L  H  A  L  Q  P  N  S  T  K   | N  F  R  P  A      p.220

          .         .         .      | 10  .         .         .    g.9858
 GGGGGCGCGGTGCTGCATAGCCCTGGGGCCATGTT | CGAGTGGGGCTCTCAGCGCCTGGAG    c.720
 G  G  A  V  L  H  S  P  G  A  M  F  |  E  W  G  S  Q  R  L  E      p.240

          .         .         .         .         .         .       g.9918
 GTGAGCCACGTGCACAAAGTGGAGTGCGTGATCCCCTGGCTCAACGACGCCCTGGTCTAC       c.780
 V  S  H  V  H  K  V  E  C  V  I  P  W  L  N  D  A  L  V  Y         p.260

          .         .         .         .   | 11     .         .    g.10190
 TTCACCGTCTCCCTGCAGCTCTGCCAGCAGCTCAAGGACAAG | ATCTCCGTGTTCTCCAGC    c.840
 F  T  V  S  L  Q  L  C  Q  Q  L  K  D  K   | I  S  V  F  S  S      p.280

          .         .                                               g.10214
 TACTGGAGCTACAGACCCTTCTGA                                           c.864
 Y  W  S  Y  R  P  F  X                                             p.287

          .         .         .         .         .         .       g.10274
 tcacagcacccaggagcttgtctccaggaaggcggccccgtcccctactcatacccacca       c.*60

          .         .         .         .         .         .       g.10334
 cagagcaccagccagtgccaacgccaggctgctatttatctccctatcccaccccctacc       c.*120

          .         .         .         .         .         .       g.10394
 ccacctaacacatttgcactgccgggaatggacactggaagtgccaggaggaaggaaggc       c.*180

          .         .         .         .         .         .       g.10454
 tggtttggtggggtagtggggaggtcagggaggcggggccaagggtgtcccacattccca       c.*240

          .         .         .         .         .         .       g.10514
 acaccgccctctgatcaccatgggaatctttggactcaggacagggccaggcgcagggct       c.*300

          .         .         .         .         .         .       g.10574
 ctccctcctctccccttcgctgtcccctccccctggagggcatggtgtcggggggtggca       c.*360

          .         .         .         .         .         .       g.10634
 ctgagctatgagtcccggggatggtgaggaacgccacagacagagccaccctaggagtga       c.*420

          .         .         .         .         .         .       g.10694
 gtatagtgctggtgactgtgtttcatagccccagtccagggctgtctaagaaataaagat       c.*480

          .                                                         g.10706
 catcagactcca                                                       c.*492

 (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 Rogdi homolog (Drosophila) 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.3.0 Build 06
©2004-2013 Leiden University Medical Center