RAB28, member RAS oncogene family (RAB28) - coding DNA reference sequence

(used for variant description)

(last modified August 29, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_001017979.2 in the RAB28 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033891.1, covering RAB28 transcript NM_001017979.2.

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

 (upstream sequence)
                               .         .         .                g.5035
                          gtgcgcgtagggggcggggccgcgcgcagagggcg       c.-181

 .         .         .         .         .         .                g.5095
 gggaggtgggcaagatggcgcttgccgagtgattctcctcgaatacctcctgccggcgcg       c.-121

 .         .         .         .         .         .                g.5155
 gagacaccggggcgggggtcctgccgcaactacctcccttcctcctctcccccgcccccg       c.-61

 .         .         .         .         .         .                g.5215
 gagccttcatccttcccttccccccccacctcgaggggcgggcctggttcccgggacacc       c.-1

          .         .         .         .         .         .       g.5275
 ATGTCGGACTCTGAGGAGGAGAGCCAGGACCGGCAACTGAAAATCGTCGTGCTGGGGGAC       c.60
 M  S  D  S  E  E  E  S  Q  D  R  Q  L  K  I  V  V  L  G  D         p.20

          .      | 02  .         .         .         .         .    g.9884
 GGCGCCTCCGGGAAG | ACCTCCTTAACTACGTGTTTTGCTCAAGAAACTTTTGGGAAACAG    c.120
 G  A  S  G  K   | T  S  L  T  T  C  F  A  Q  E  T  F  G  K  Q      p.40

          .         .         .         .         .   | 03     .    g.14967
 TACAAACAAACTATAGGACTGGATTTCTTTTTGAGAAGGATAACATTGCCAG | GAAACTTG    c.180
 Y  K  Q  T  I  G  L  D  F  F  L  R  R  I  T  L  P  G |   N  L      p.60

          .         .         .         .         .         .       g.15027
 AATGTTACCCTTCAAATTTGGGATATAGGAGGGCAGACAATAGGAGGCAAAATGTTGGAT       c.240
 N  V  T  L  Q  I  W  D  I  G  G  Q  T  I  G  G  K  M  L  D         p.80

          .         .  | 04      .         .         .         .    g.28576
 AAATATATCTATGGAGCACAG | GGAGTCCTCTTGGTATATGATATTACAAATTATCAAAGC    c.300
 K  Y  I  Y  G  A  Q   | G  V  L  L  V  Y  D  I  T  N  Y  Q  S      p.100

          .         .         .         .         .         .       g.28636
 TTTGAGAATTTAGAAGATTGGTATACTGTGGTGAAGAAAGTGAGCGAGGAGTCAGAAACT       c.360
 F  E  N  L  E  D  W  Y  T  V  V  K  K  V  S  E  E  S  E  T         p.120

          .         .         .  | 05      .         .         .    g.107800
 CAGCCACTGGTTGCCTTGGTAGGCAATAAAA | TTGATTTGGAGCATATGCGAACAATAAAA    c.420
 Q  P  L  V  A  L  V  G  N  K  I |   D  L  E  H  M  R  T  I  K      p.140

          .         .         .         .         .         .       g.107860
 CCTGAAAAACACTTACGGTTTTGCCAGGAAAATGGTTTTAGTAGCCACTTTGTCTCAGCC       c.480
 P  E  K  H  L  R  F  C  Q  E  N  G  F  S  S  H  F  V  S  A         p.160

          .      | 06  .         .         .         .         .    g.112788
 AAGACAGGAGACTCT | GTCTTCCTGTGCTTTCAGAAAGTTGCTGCTGAAATCCTTGGGATC    c.540
 K  T  G  D  S   | V  F  L  C  F  Q  K  V  A  A  E  I  L  G  I      p.180

          .         .         .    | 07    .         .         .    g.120742
 AAATTAAACAAAGCAGAAATAGAACAGTCACAG | AGGGTGGTGAAGGCAGATATTGTAAAC    c.600
 K  L  N  K  A  E  I  E  Q  S  Q   | R  V  V  K  A  D  I  V  N      p.200

          .         .         .         .         .         .       g.120802
 TACAACCAGGAACCTATGTCAAGGACTGTTAACCCTCCTAGAAGCTCTATGTGTGCAGTT       c.660
 Y  N  Q  E  P  M  S  R  T  V  N  P  P  R  S  S  M  C  A  V         p.220

                                                                    g.120808
 CAGTGA                                                             c.666
 Q  X                                                               p.221

          .         .         .         .         .         .       g.120868
 gcgcatttttcttttgtgttgatagttctggctgcccttcacctctgggtgggcccgagg       c.*60

          .         .         .         .         .         .       g.120928
 acttctaggaacttgttttatcagtgaccatctctgtagttcagttaacactttactccc       c.*120

          .         .         .         .         .         .       g.120988
 aacttgcttcatcattgctattgcctcacagtggcaggcagctccttggatttgaaagaa       c.*180

          .         .         .         .         .         .       g.121048
 ttcaactttgggaccacacactttgaattcaaaatggaaaacccattccctggaattaga       c.*240

          .         .         .         .         .         .       g.121108
 ctgcttcattgcaaaagaatgatgttgtttctttgtatgtccttgcttcttttttcattg       c.*300

          .         .         .         .         .         .       g.121168
 atgtaaatttttttaacttaatatgaaaactctccaagtcttgatcatcagccaggattt       c.*360

          .         .         .         .         .         .       g.121228
 tgccacagcaatttcattctcttatcggaacttgtatgtgtcaaagtatacttcagagtg       c.*420

          .         .         .         .         .         .       g.121288
 caaacattaagcaagtaatatattttacctacagatacttatgaagacattctttcgcta       c.*480

          .         .         .         .         .         .       g.121348
 tcgtgagtaaaagtatataaagctgtttctaactgaaaatgcttgaaataagcctgtaat       c.*540

          .         .         .         .         .         .       g.121408
 agaaatattttttcattttttaaaaaagggcctaaattgtttatattgtagtttgtaact       c.*600

          .         .         .         .         .         .       g.121468
 cacaaagtaatatttgatattgtatttttattactgtatcgttgtcgttatgtattgtgt       c.*660

          .         .         .         .         .         .       g.121528
 aatactcaggtttgaaggctttctgaattctgataaatgttcagctgatgctccacgtgg       c.*720

          .         .         .         .         .         .       g.121588
 aatttctcttgcaaactgcataagagtactcccgagaatgagttatgacattgtggatca       c.*780

          .         .         .         .         .                 g.121643
 gactgtacctgatgttcagatgtttttctttcacaaataaacttatttaaattac            c.*835

 (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 RAB28, member RAS oncogene family 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.