RAD51 homolog C (S. cerevisiae) (RAD51C) - coding DNA reference sequence

(used for variant description)

(last modified October 7, 2014)

This file was created to facilitate the description of sequence variants in the FANCA gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_023199.1 (identical to LRG_314), covering FANCA transcript NM_058216.1.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                     .         .         .         .                g.5042
                   gtgcggagtttggctgctccggggttagcaggtgagcctgcg       c.-1

          .         .         .         .         .         .       g.5102
 ATGCGCGGGAAGACGTTCCGCTTTGAAATGCAGCGGGATTTGGTGAGTTTCCCGCTGTCT       c.60
 M  R  G  K  T  F  R  F  E  M  Q  R  D  L  V  S  F  P  L  S         p.20

          .         .         .         .         .         .       g.5162
 CCAGCGGTGCGGGTGAAGCTGGTGTCTGCGGGGTTCCAGACTGCTGAGGAACTCCTAGAG       c.120
 P  A  V  R  V  K  L  V  S  A  G  F  Q  T  A  E  E  L  L  E         p.40

          .         .      | 02  .         .         .         .    g.7364
 GTGAAACCCTCCGAGCTTAGCAAAG | AAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACT    c.180
 V  K  P  S  E  L  S  K  E |   V  G  I  S  K  A  E  A  L  E  T      p.60

          .         .         .         .         .         .       g.7424
 CTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAG       c.240
 L  Q  I  I  R  R  E  C  L  T  N  K  P  R  Y  A  G  T  S  E         p.80

          .         .         .         .         .         .       g.7484
 TCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATA       c.300
 S  H  K  K  C  T  A  L  E  L  L  E  Q  E  H  T  Q  G  F  I         p.100

          .         .         .         .         .         .       g.7544
 ATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACA       c.360
 I  T  F  C  S  A  L  D  D  I  L  G  G  G  V  P  L  M  K  T         p.120

          .         .         .         .     | 03   .         .    g.9107
 ACAGAAATTTGTGGTGCACCAGGTGTTGGAAAAACACAATTATG | TATGCAGTTGGCAGTA    c.420
 T  E  I  C  G  A  P  G  V  G  K  T  Q  L  C  |  M  Q  L  A  V      p.140

          .         .         .         .         .         .       g.9167
 GATGTGCAGATACCAGAATGTTTTGGAGGAGTGGCAGGTGAAGCAGTTTTTATTGATACA       c.480
 D  V  Q  I  P  E  C  F  G  G  V  A  G  E  A  V  F  I  D  T         p.160

          .         .         .         .         .         .       g.9227
 GAGGGAAGTTTTATGGTTGATAGAGTGGTAGACCTTGCTACTGCCTGCATTCAGCACCTT       c.540
 E  G  S  F  M  V  D  R  V  V  D  L  A  T  A  C  I  Q  H  L         p.180

          .         .         .  | 04      .         .         .    g.15623
 CAGCTTATAGCAGAAAAACACAAGGGAGAGG | AACACCGAAAAGCTTTGGAGGATTTCACT    c.600
 Q  L  I  A  E  K  H  K  G  E  E |   H  R  K  A  L  E  D  F  T      p.200

          .         .         .         .         .         .       g.15683
 CTTGATAATATTCTTTCTCATATTTATTATTTTCGCTGTCGTGACTACACAGAGTTACTG       c.660
 L  D  N  I  L  S  H  I  Y  Y  F  R  C  R  D  Y  T  E  L  L         p.220

          .         .         .         .      | 05  .         .    g.22272
 GCACAAGTTTATCTTCTTCCAGATTTCCTTTCAGAACACTCAAAG | GTTCGACTAGTGATA    c.720
 A  Q  V  Y  L  L  P  D  F  L  S  E  H  S  K   | V  R  L  V  I      p.240

          .         .         .         .         .         .       g.22332
 GTGGATGGTATTGCTTTTCCATTTCGTCATGACCTAGATGACCTGTCTCTTCGTACTCGG       c.780
 V  D  G  I  A  F  P  F  R  H  D  L  D  D  L  S  L  R  T  R         p.260

          .         .         .         .         .        | 06.    g.33147
 TTATTAAATGGCCTAGCCCAGCAAATGATCAGCCTTGCAAATAATCACAGATTAGCT | GTA    c.840
 L  L  N  G  L  A  Q  Q  M  I  S  L  A  N  N  H  R  L  A   | V      p.280

          .         .         .         .         .         .       g.33207
 ATTTTAACCAATCAGATGACAACAAAGATTGATAGAAATCAGGCCTTGCTTGTTCCTGCA       c.900
 I  L  T  N  Q  M  T  T  K  I  D  R  N  Q  A  L  L  V  P  A         p.300

      | 07   .         .         .         .         .         .    g.36494
 TTAG | GGGAAAGTTGGGGACATGCTGCTACAATACGGCTAATCTTTCATTGGGACCGAAAG    c.960
 L  G |   E  S  W  G  H  A  A  T  I  R  L  I  F  H  W  D  R  K      p.320

       | 08  .         .         .         .         .         .    g.44937
 CAAAG | GTTGGCAACATTGTACAAGTCACCCAGCCAGAAGGAATGCACAGTACTGTTTCAA    c.1020
 Q  R  |  L  A  T  L  Y  K  S  P  S  Q  K  E  C  T  V  L  F  Q      p.340

        | 09 .         .         .         .         .         .    g.46570
 ATCAAA | CCTCAGGGATTTAGAGATACTGTTGTTACTTCTGCATGTTCATTGCAAACAGAA    c.1080
 I  K   | P  Q  G  F  R  D  T  V  V  T  S  A  C  S  L  Q  T  E      p.360

          .         .         .         .         .                 g.46621
 GGTTCCTTGAGCACCCGGAAACGGTCACGAGACCCAGAGGAAGAATTATAA                c.1131
 G  S  L  S  T  R  K  R  S  R  D  P  E  E  E  L  X                  p.376

          .         .         .         .         .         .       g.46681
 cccagaaacaaatctcaaagtgtacaaatttattgatgttgtgaaatcaatgtgtacaag       c.*60

          .         .         .         .                           g.46730
 tggacttgttaccttaaagtataaataaacacactatggcatgaatgaa                  c.*109

 (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 RAD51 homolog C (S. cerevisiae) 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.

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