intraflagellar transport 43 homolog (Chlamydomonas) (IFT43) - coding DNA reference sequence

(used for variant description)

(last modified April 25, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_052873.2 in the IFT43 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_031957.1, covering IFT43 transcript NM_052873.2.

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

 (upstream sequence)
                               .         .         .                g.5034
                           ggtttccaggaagtgacgtcaggcggccgcggag       c.-1

          .         .         .         .         .     | 02   .    g.8138
 ATGGAGGATTTGCTCGACTTGGACGAGGAGCTTCGCTACAGCTTGGCTACCTCC | AGGGCC    c.60
 M  E  D  L  L  D  L  D  E  E  L  R  Y  S  L  A  T  S   | R  A      p.20

          .         .         .         .         .         .       g.8198
 AAGATGGGTCGCCGAGCTCAACAGGAGTCAGCGCAGGCCGAGAATCACCTCAATGGCAAG       c.120
 K  M  G  R  R  A  Q  Q  E  S  A  Q  A  E  N  H  L  N  G  K         p.40

          .         .        | 03.         .         .         .    g.41607
 AATTCCTCTTTGACTCTGACTGGAGAG | ACTTCCTCTGCTAAATTACCTCGCTGCCGACAG    c.180
 N  S  S  L  T  L  T  G  E   | T  S  S  A  K  L  P  R  C  R  Q      p.60

          .         .         .      | 04  .         .         .    g.95869
 GGAGGCTGGGCAGGTGATTCCGTGAAGGCTTCGAA | CGGTACCCAAACAGGCAAACAACAG    c.240
 G  G  W  A  G  D  S  V  K  A  S  N  |  G  T  Q  T  G  K  Q  Q      p.80

          .         .         .         .         .         .       g.95929
 CTGGATCTGAACGCATGCTATCACAAAACGCATCACAGAGATTTGGGGCTGGCTTCATTG       c.300
 L  D  L  N  A  C  Y  H  K  T  H  H  R  D  L  G  L  A  S  L         p.100

          . | 05       .         .         .         .         .    g.101592
 GAAGAGGCAG | ATATTCCTATCATTCCGGATCTGGAGGAAGTACAGGAAGAAGACTTTGTT    c.360
 E  E  A  D |   I  P  I  I  P  D  L  E  E  V  Q  E  E  D  F  V      p.120

          .         .    | 06    .         .         .         .    g.101901
 TTGCAGGTGGCAGCCCCTCCCAG | CATCCAGATAAAGCGGGTGATGACCTACCGTGACCTG    c.420
 L  Q  V  A  A  P  P  S  |  I  Q  I  K  R  V  M  T  Y  R  D  L      p.140

          .         .         .          | 07        .         .    g.102495
 GACAATGACCTCATGAAGTACTCAGCCATTCAGACACTG | GATGGGGAGATCGACCTGAAA    c.480
 D  N  D  L  M  K  Y  S  A  I  Q  T  L   | D  G  E  I  D  L  K      p.160

          .         .         .         .   | 08     .         .    g.102723
 CTCCTCACCAAAGTGCTCGCGCCGGAGCACGAAGTCCGGGAG | GATGATGTCGGCTGGGAC    c.540
 L  L  T  K  V  L  A  P  E  H  E  V  R  E   | D  D  V  G  W  D      p.180

          .         .         .         .         .         .       g.102783
 TGGGACCATCTGTTCACTGAGGTGTCCTCAGAGGTCCTCACTGAGTGGGACCCACTGCAG       c.600
 W  D  H  L  F  T  E  V  S  S  E  V  L  T  E  W  D  P  L  Q         p.200

          .         .         .         .                           g.102825
 ACGGAGAAGGAGGACCCTGCGGGGCAGGCCAGGCACACCTGA                         c.642
 T  E  K  E  D  P  A  G  Q  A  R  H  T  X                           p.213

          .         .         .         .         .         .       g.102885
 gcccgtcacccatgctctagacatgaagaaatgcaatgagcttaaagctaaagaagcttg       c.*60

          .         .         .         .         .         .       g.102945
 taagcagctccgaatttttacctggaatattttgtaataaaaatatttatattcagtcaa       c.*120

          .         .         .         .         .                 g.102997
 ccacattggataattcaattgcaataaattgcttattctgtgccatctcctc               c.*172

 (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 Intraflagellar transport 43 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.