complement component 3 (C3) - coding DNA reference sequence

(used for mutation description)

(last modified April 29, 2014)
This file was created to facilitate the description of sequence variants in the C3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering C3 transcript NM_000064.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .                           g.48
 TTGGGCTTCTCTCCCCAGAAATCGGAGGAGAGACCCCACATGAGGTAG                   c.48
 L  G  F  S  P  Q  K  S  E  E  R  P  H  M  R  X                     p.15

          .         .         .         .         .         .       g.108
 tgtttcttctcctccagcttcagggcttctctgcacttgatggggctgatgaacgtgcgc       c.*60

          .         .         | 02         .         .         .    g.252
 tgctgtccaacctgcacctcatccgagc | ctgacttgatggtctgctcaatggccatgatg    c.*120

          .         .         .         .         .   | 03     .    g.981
 tactcgtcaaagtcattggacagctgaaccttgaccagtcgggtcttgtaca | catagtcc    c.*180

          .         .         .         .         .         .       g.1041
 actcctggctcacaggccttgtccagccgttcttccagggtgaccttgtcatccgacttt       c.*240

          .       | 04 .         .         .         .         .    g.1299
 tgtatgaagcaattct | cctcagcacagcggcacagttcatcacggcagagcttgttcagc    c.*300

          .         .         .         .       | 05 .         .    g.2020
 tttccatcctccttttccggatggtagaaccgggtacagctttcct | ccaggttgtaatag    c.*360

          .         .         .         .         .         .       g.2080
 gcgtagaccttgactgctccaggctggataagctctacattaaagtattggtgaactttg       c.*420

          .         .         .   | 06     .         .         .    g.3817
 aaagctagacagtcatcctcagagtgtgagac | cttgtccaggtagatgatgagggtgttc    c.*480

          .         .         .         .         .         .       g.3877
 ctatcggagaaggctttgtccagctcatacttggagatgtatctgtcaacaccattggcc       c.*540

    | 07     .         .         .         .         .         .    g.4048
 ag | ctgcttcaggtcatctgtgtctggagcaaagccagtcatcatggatatgtccaatata    c.*600

          .         .         . | 08       .         .         .    g.6266
 gacatagtggcatcctggtctccccggtac | ctggtacagatctcaaggatcatagtgttc    c.*660

          .         .   | 09     .         .         .         .    g.6446
 ttggcatcctgaggcctctttt | ctgtttccggtgctggttttatggtgaccttgaggtcg    c.*720

          .         .         .         .         .    | 10    .    g.6630
 aatttattacaggtgagttgatctttggccttagcatggtacattgtcaccac | cgacaag    c.*780

          .         .         .         .         .    | 11    .    g.6843
 gtgccttggccttttccttcagctgtgactgtgaaaccctcattttccttggt | ctcttct    c.*840

          .         .         .         .         .         .       g.6903
 gatcgcaggaggctggcagattcccagtggatacggtgggtgatcttggagctgcggctg       c.*900

          .         .         .         .         .         .       g.6963
 ggcagttggagggacacatcaaggttcagttcctggtggtcaggggcgtccttttggtat       c.*960

          .         .         .   | 12     .         .         .    g.8000
 tgagccaaggcttggaacaccatgaaggtggc | ctgggtagagccatagccaccaccgtag    c.*1020

          .         .         .         .         .         .       g.8060
 tatctctgttcattgagccaacgcacgacgggaggcacaaagtcaaagtcttttagctgc       c.*1080

          .         .         .         .         .         .       g.8120
 agtagggccaagagggcataggatgtggcctccacgttgtagagctgcttaccagggtcc       c.*1140

          .       | 13 .         .         .         .         .    g.8638
 tcccagcggttcttat | ctttggctgtggtcagaaatttgttaagaagaggccccttcagc    c.*1200

          .         .         .         .         .         .       g.8698
 ctgcccatctgggccagagcatagccagcaatggccacagtgtaggatctctgtaggttc       c.*1260

          .         .         .         .         .    | 14    .    g.12484
 atgtagttggcttcaaggaagtctcctgctttagtgatgctgcctggcaggct | gttgacc    c.*1320

          .         .         .         .         .         .       g.12544
 tgctcctcgcaaatatctttagcctcctgcagcgagatgagaacaaaggccgtgagggcc       c.*1380

          .         .         .   | 15     .         .         .    g.14800
 atgtctttctcgttgttgttccgtaatccacc | aatcatttcttggtgtatcacgggcgca    c.*1440

          .         .         .         .         .         .       g.14860
 tcctcctggaagaccccgtcgggcttctgcttctccaggatcagccatttaacagccccg       c.*1500

          .         .         .         .         .         .       g.14920
 cagaggacttgggagtcgatggcgatgaggttgacagccagagagaagaccttgaccacg       c.*1560

          .   | 16     .         .         .         .         .    g.15308
 taggcggtcagc | caggtgctgggtgcccgtttcacgaaggccgcaaaggcagagctgggt    c.*1620

          .         .         | 17         .         .         .    g.16311
 tgtctgaaggccagctgctgggtgtacc | ccttcttgatgagctccaaggccccctgccgc    c.*1680

          .         .         .         .         .         .       g.16371
 ttctctaggccgaacttctcccactgctccgtttcatccaggtaatgcacagcgatgacc       c.*1740

          .         .         .         .         .         .       g.16431
 gtgggcgtcatgccgatcatgttctgttccccgcagcccgagggggtcacaatgaggtgc       c.*1800

          .         .         .         .         .   | 18     .    g.18235
 ttcagccgttccgcgtcgacggcatcctctgtcatctgggccactggggtcc | cttgcagg    c.*1860

          .         .         .         .         .         .       g.18295
 agaattctggtctcagactcggtgtccgggacttggtcactgaggtctgcaggtgggatg       c.*1920

          .          | 19        .         .         .         .    g.18482
 tcctctttctgcactcctt | cacggcccaggcgttctggatccagggtgcgaacagccaca    c.*1980

          .         .       | 20 .         .         .         .    g.19226
 gttttgttcattctgattccttccgg | cacgaccttcagggacttcctgacaccgtcactg    c.*2040

          .         .         .         .         .         .       g.19286
 atgaaatgatggtagacagcagccttgacttccacttcctgcaggccggtctttagcggc       c.*2100

          .         .         .         .         .         .       g.19346
 acgatgacatatggaacggacaacgaggacttgggggggatggttacggtctgctggtga       c.*2160

          .         .         .         .         .          | 21    g.19501
 cgcctcttggtggtggccaggctgcagaaggctggattgtggagtagttccaccctcac | c    c.*2220

          .         .         .         .         .         .       g.19561
 ttgagctcttggttctgccggtaattgtagagaacggctcggatttccacctgctcgttt       c.*2280

          .         .         .         .         .         .       g.19621
 cgaacaacagagtagggtagccgcaggtcgatgaagaagtcctgcattactgtgacctcg       c.*2340

          .         .   | 22     .         .         .         .    g.24013
 aaggggtctgccacacagatcc | ctttcttgtccgacatgctcacagccagaatctcccac    c.*2400

          .         .         .         .         | 23         .    g.24331
 gtggtgatggagtctttcaaaaatatattcatgagcttcgtagagatt | ccatttttcggt    c.*2460

          .         .         .         .         .         .       g.24391
 ggctctttcaagtcctcaacgttccacagccagctctctgggaactcacttcgggaaacg       c.*2520

          .         .         .        | 24.         .         .    g.28947
 atgttctcttctgcaatgatgtcctcatccaggttac | tcctggccaggcccaggtggctg    c.*2580

          .         .         .         .         .         .       g.29007
 gcccgcgcgtgctgccgccgcagctctgtgatgtagttgcagcagtccaggaagaccttc       c.*2640

          .         .         .         .         .         .       g.29067
 ttgcacgcctcgcccagggagatgaaacgggtccggcgctggcacgagaacctcatgggg       c.*2700

          .         .         .         .         .      | 25  .    g.29319
 ttctcccgcatgccgtcctcgcagcacttgcgcagctccttggggtacttgccga | ctttg    c.*2760

          .         .         .         .         .         .       g.29379
 tccattcgcttctccgtgagctgcacggaacggcgtcggcgggcggctggctgcgggcac       c.*2820

         | 26.         .         .         .         .         .    g.29701
 tgaagtt | ctgccctctgggcggtctgctggccactgctgctcgtgaaggtcagccctgcg    c.*2880

          .         .         .         .         .         .       g.29761
 tcggagaagacaccggcgtaatccttcccactgcccggggtgcagccgatgtctgccttc       c.*2940

          .        | 27.         .         .         .         .    g.31575
 tccaccacgtcccagat | cttactctgcgtcagtttgttcttcttattcagcacgaacacg    c.*3000

          .         .         .         .         .         .       g.31635
 cccttgtccacggccaccagtaccacccgggccccgtggtcaccctctatcttcagggtc       c.*3060

          .         .         .         .         .       | 28 .    g.32491
 atctgctgcccaggtacaggctgccggtcttctgactggccgctttttaccaccag | cgag    c.*3120

          .         .         .         .         .         .       g.32551
 cccacgcaggagtccttgacgtccacccacacggagtcggccaccacctccctctggccg       c.*3180

          .         .         .         .         .         .       g.32611
 ctggcaccgatcagcgtgtagtacgccaccaggcggaaggaagggatgaagtcggtggtg       c.*3240

          .         .         .         .         .         .       g.32671
 atggacaggggcagcaccaccaggtcctggccgggctctcgcacctggcgtcccgccttc       c.*3300

          .         .    | 29    .         .         .         .    g.32872
 aacagcctgcccttgttcatgat | caggtaggtgtagtagcggatcttggcctcgtgggcg    c.*3360

          .         .         .         .         .         .       g.32932
 cggtccattcgcaggaggaagttgacgttgagggtctccccgggtctgagctctgtacgt       c.*3420

          .         .         .         .         .         .       g.32992
 agcactgagagatgcaggtaattgttggagttgcccacggtgctgtagggcagagcctgc       c.*3480

          .         .         .         .         .    | 30    .    g.34112
 atggtcctggtagcctgctctgcctccgagagctcctgcttcttcgtgcgcac | cgtgatg    c.*3540

          .         .         .         .         .         .       g.34172
 ctcaagggcttctggctggggtgtgtgttgatgctgagtttggccacgccatctccctgg       c.*3600

          .         .         .         .         .         .       g.34232
 gttagagactgcacagtgtcctcgccctggactgccacggggactcggtaggctggagag       c.*3660

          .         .    | 31    .         .         .         .    g.34393
 ccatcagggttcgtcacgaacac | catgaggtcaaagggcattcctggtttgaagtacttg    c.*3720

          .         .         .         .         .         .       g.34453
 ggtgtcttggtgaagtggatctggtagggagaggtcacgatggggatcccgctgcgctct       c.*3780

          .          | 32        .         .         .         .    g.35078
 gcctgcaccatgtcactgc | ctgagtgcaagatgacggtggcagacacgtacaaagacttc    c.*3840

          .         .         .         .         .         .       g.35138
 cccaccaggtcttctgctcgggggttctgcaccccgtccagcagtaccttccggctcagc       c.*3900

          .         .       | 33 .         .         .         .    g.35289
 acaacctcccccgagccatcctcaat | cggaatgcgcttgagggattcaggcagggaaatc    c.*3960

          .         .         .         .         .         .       g.35349
 ctctgttcgccatcctggatcccgaagatgacaaaggcagttccctccactttcttcccg       c.*4020

           | 34        .         .         .         .         .    g.35891
 tagaggaac | ctggcggtgatggtgacctccaggcccttctcgttatagatgtagtagaat    c.*4080

          .         .         .         . | 35       .         .    g.36034
 ttctctgtaggctccactatgacctcgaaactgggcagca | cgtactccttcacctcaaac    c.*4140

          .         .         .         .         .         .       g.36094
 tcagtggagaagacctgctgtggtgagttttcatagtaggctcggatcttccactggccc       c.*4200

     | 36    .         .         .         .         .         .    g.36257
 atg | ttgacgagttccggaatgtcccaagacaagggcaagacgccaagctggttctgagaa    c.*4260

          .         .         .         | 37         .         .    g.39964
 gacaaggagtcctgcttgaccgggatgccttccgggtt | ctcaatgttgaccatgaccgtc    c.*4320

          .         .         .         .          | 38        .    g.40106
 cggcccacgggtagcagcttgtggttgacggtgaagatccgatagagaa | ctgtggagcca    c.*4380

          .         .         .         .         .         .       g.40166
 ggggtgtagatggtcttgtctgtctggatgaagaggtacccgctctgcaggctgaccagc       c.*4440

          .         .         .         .         .         .       g.40226
 accaccttctccaccacttgggtcccgaaggtggcctgcacggtcacgaacttgttgcgc       c.*4500

          .         .         .      | 39  .         .         .    g.41084
 cccttttctgacttgaactccctgttggctgggat | cgtgaaggtgacgttgcccatgtgg    c.*4560

          .         .         .         .         .         .       g.41144
 ttggtggcaggggtcagcacagtcttctcactggacagcactagttttttgcctgggaag       c.*4620

          .         .         .         .         .         .       g.41204
 tcgtggacagtaacagtgactggaacatccccttgcgcgtcgtgggcctccagcaccatg       c.*4680

          .         .         .         .         | 40         .    g.42376
 gtctcctcgctctccagccgcaagatgttgggggtgatgatagagtac | atgggactcccc    c.*4740

          .         .         .         .         .         .       g.42436
 agagccagggggaggtgggttagtagcaggagcagcaggctgggacctgaggtgggtccc       c.*4800

          .         .         .         .         .         .       g.42496
 atggtgctgggacagtgcagggtcagagggacagagggacagagggagaggatggggagg       c.*4860

      | 41   .         .         .         .         .         .                                                           g.42556
 agtg | c                                                           c.*4865

 (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 Complement component 3 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.