WD repeat domain 73 (WDR73) - coding DNA reference sequence

(used for variant description)

(last modified June 16, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_032856.2 in the WDR73 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000015.9, covering WDR73 transcript NM_032856.2.

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

 (upstream sequence)
                                                   .                g.5016
                                             ggaagcggtcgttgcc       c.-1

          .         .         .         .  | 02      .         .    g.5610
 ATGGATCCTGGGGACGACTGGCTGGTGGAATCCTTGCGCTT | GTACCAGGATTTCTATGCA    c.60
 M  D  P  G  D  D  W  L  V  E  S  L  R  L  |  Y  Q  D  F  Y  A      p.20

          .         .         .         .          | 03        .    g.6499
 TTCGACCTGTCAGGAGCCACTCGAGTCCTTGAATGGATTGATGACAAAG | GAGTCTTTGTT    c.120
 F  D  L  S  G  A  T  R  V  L  E  W  I  D  D  K  G |   V  F  V      p.40

          .         .         .         .         .         .       g.6559
 GCTGGCTATGAAAGCCTGAAAAAGAATGAAATTCTTCATCTGAAATTACCTCTCAGACTT       c.180
 A  G  Y  E  S  L  K  K  N  E  I  L  H  L  K  L  P  L  R  L         p.60

          .         | 04         .         .         .         .    g.10707
 TCTGTAAAGGAAAACAAG | GGCTTATTCCCAGAAAGAGATTTCAAAGTGCGCCATGGAGGA    c.240
 S  V  K  E  N  K   | G  L  F  P  E  R  D  F  K  V  R  H  G  G      p.80

          .         .         .         .        | 05.         .    g.11349
 TTTTCAGACAGGTCTATCTTTGATCTAAAGCATGTGCCACATACCAG | ATTGCTGGTTACC    c.300
 F  S  D  R  S  I  F  D  L  K  H  V  P  H  T  R  |  L  L  V  T      p.100

          .         .         .         .         .   | 06     .    g.12950
 AGTGGCCTTCCAGGTTGTTATCTGCAGGTGTGGCAGGTTGCAGAGGACAGTG | ATGTCATT    c.360
 S  G  L  P  G  C  Y  L  Q  V  W  Q  V  A  E  D  S  D |   V  I      p.120

          .         .         .         .         .         .       g.13010
 AAAGCTGTCAGCACCATTGCTGTGCATGAGAAAGAGGAGAGTCTCTGGCCTAGGGTGGCC       c.420
 K  A  V  S  T  I  A  V  H  E  K  E  E  S  L  W  P  R  V  A         p.140

          .         .         .         .         .         .       g.13070
 GTCTTCTCCACATTGGCACCCGGAGTCCTCCATGGGGCGAGGCTCCGAAGTCTGCAGGTC       c.480
 V  F  S  T  L  A  P  G  V  L  H  G  A  R  L  R  S  L  Q  V         p.160

          .         .         .        | 07.         .         .    g.13477
 GTTGATCTGGAGTCCCGGAAGACCACGTACACCTCAG | ATGTCAGTGACAGTGAGGAGCTG    c.540
 V  D  L  E  S  R  K  T  T  Y  T  S  D |   V  S  D  S  E  E  L      p.180

          .         .         .         .         .         .       g.13537
 AGTAGCCTGCAGGTCCTAGATGCAGACACCTTTGCCTTCTGCTGTGCTTCAGGCCGGCTG       c.600
 S  S  L  Q  V  L  D  A  D  T  F  A  F  C  C  A  S  G  R  L         p.200

          .         .         .         .         .         .       g.13597
 GGGCTTGTTGACACCCGGCAGAAGTGGGCACCGTTGGAGAATCGCAGCCCTGGCCCTGGG       c.660
 G  L  V  D  T  R  Q  K  W  A  P  L  E  N  R  S  P  G  P  G         p.220

          .         .         .         .         .         .       g.13657
 TCTGGTGGAGAGAGATGGTGTGCTGAAGTTGGGAGCTGGGGCCAGGGCCCTGGGCCCAGC       c.720
 S  G  G  E  R  W  C  A  E  V  G  S  W  G  Q  G  P  G  P  S         p.240

          .         .         .         .         .         .       g.13717
 ATTGCCAGCCTTGGCTCAGATGGGCGTCTTTGTCTTCTTGACCCCCGGGATCTCTGCCAT       c.780
 I  A  S  L  G  S  D  G  R  L  C  L  L  D  P  R  D  L  C  H         p.260

          .         .         .         .         .         .       g.13777
 CCTGTGAGCTCAGTCCAGTGCCCAGTATCCGTACCTAGCCCTGACCCAGAGCTGCTGCGA       c.840
 P  V  S  S  V  Q  C  P  V  S  V  P  S  P  D  P  E  L  L  R         p.280

          .         .         .         .    | 08    .         .    g.15584
 GTGACTTGGGCCCCAGGCCTGAAGAATTGCTTGGCCATCTCAG | GTTTTGATGGTACAGTC    c.900
 V  T  W  A  P  G  L  K  N  C  L  A  I  S  G |   F  D  G  T  V      p.300

          .         .         .         .         .         .       g.15644
 CAGGTCTATGATGCCACATCTTGGGATGGAACACGGAGCCAAGATGGAACACGGAGCCAA       c.960
 Q  V  Y  D  A  T  S  W  D  G  T  R  S  Q  D  G  T  R  S  Q         p.320

          .         .         .         .         .         .       g.15704
 GTAGAACCTCTCTTCACTCACAGAGGTCACATCTTCCTAGATGGAAATGGGATGGACCCT       c.1020
 V  E  P  L  F  T  H  R  G  H  I  F  L  D  G  N  G  M  D  P         p.340

          .         .         .         .         .         .       g.15764
 GCTCCTTTGGTCACCACCCACACCTGGCATCCCTGCAGACCAAGGACTTTGTTATCAGCA       c.1080
 A  P  L  V  T  T  H  T  W  H  P  C  R  P  R  T  L  L  S  A         p.360

          .         .         .         .         .                 g.15821
 ACAAATGATGCCTCTCTGCATGTGTGGGACTGGGTGGACCTTTGTGCCCCCCGCTGA          c.1137
 T  N  D  A  S  L  H  V  W  D  W  V  D  L  C  A  P  R  X            p.378

          .         .         .         .         .         .       g.15881
 caccagcatctttccatctaggcctctagaaaggggaggagctgctgtagtagcaagggt       c.*60

          .         .         .         .         .         .       g.15941
 gctcatgtaggactcaagtgactaccagtccctgttaccagctgtgtggccttgggcaag       c.*120

          .         .         .         .         .         .       g.16001
 tctgccagcgtcacttagcctcagtttccttatctgtaaaatgaggatagtaagaactac       c.*180

          .         .         .         .         .         .       g.16061
 ctcgtagtgatattgcgaaggttagaagaaacgcatggcataattacttggtagctattg       c.*240

          .         .         .         .         .         .       g.16121
 ttagatctgggagtgtgaaatggtagcgttttgtccctgtcttcacactatcatagggag       c.*300

          .         .         .         .         .         .       g.16181
 aatcaaaagagctaacaaatataaacatgctttgtgaatttttttaaagaaaaaaatgta       c.*360

          .         .         .         .         .         .       g.16241
 gaggggccaataaacatgaaaaaatcccagccctagtagcaattaaggaaatagcaaaac       c.*420

          .         .         .         .         .         .       g.16301
 aggatttctgctcctcttgagtgggtctcatgggaacacaggtgcactttcccacacttg       c.*480

          .         .         .         .         .         .       g.16361
 tccccccaggtgactaggttcaagagacatttgcttttggtggccccacaaacatttcct       c.*540

          .         .         .         .         .         .       g.16421
 tttgagggcccatagtgaatattaaagtgtgctggacatggtggctcatgcctgtaatcc       c.*600

          .         .         .         .         .         .       g.16481
 cagcactttcagaggctgaggtgggcagattgcttgagctgaggagtttgagaccagcct       c.*660

          .         .         .         .                           g.16523
 gggcaacatagcaagatcccttcccttaaaaaaaaaaaaaaa                         c.*702

 (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 WD repeat domain 73 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.