complement component 5 (C5) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the C5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering C5 transcript NM_001735.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 CTGAAACTGAAATTGTATTTTATCTGGAGGGCTTCTTTACCCATAATTAAGTACTGTCTT       c.60
 L  K  L  K  L  Y  F  I  W  R  A  S  L  P  I  I  K  Y  C  L         p.20

          .         .         .         .         .         .       g.120
 CCTTTTACCAGCTCAGCGTTAGTACAGGTTACCTTTTTAATGAAGGTAATCTCAGAGTCT       c.120
 P  F  T  S  S  A  L  V  Q  V  T  F  L  M  K  V  I  S  E  S         p.40

          .          | 02        .                                  g.3596
 TTCTCAGCAACAGCTTCCC | CAGTTTTGTAG                                  c.150
 F  S  A  T  A  S  P |   V  L  X                                    p.49

          .         .         .         .         .         .       g.3656
 atatccagaagggttgccttgtacttgacaaaaacattttctacagtgatggatgtgatg       c.*60

          .    | 03    .         .         .         .         .    g.6595
 ctaactttataag | catatgcaatctctggtttacatgctgtttgttttcttgtctctgca    c.*120

          .         .         .         .    | 04    .         .    g.7799
 gagattgtcagatccaattcttcctgcatttgcccacaatcag | cttctacacacttgcac    c.*180

          .         .         .         .         .         .       g.7859
 gcggctccttcacagactttctgaattttgatattggaagtgctataaaacatggtacac       c.*240

         | 05.         .         .         .         .         .    g.9024
 tgtttat | ctggtctgtggtattcgtacactgtgaaagtggcaggactgagaaacccaact    c.*300

          .         .         .         .         .    | 06    .    g.9200
 tcaaagagttcaaatatccggaatcgtacacaaaggaaatcactggagggaat | cgaattc    c.*360

          .         .         .         .         .         .       g.9260
 agttgcagaataacatgtccatctttgatttggtaatcagtgaatagttgatccacccct       c.*420

          | 07         .         .         .         .         .    g.9988
 tccacaag | ggcttttaagtcttcttcatttgcactgattccagtaggcaaggagatgtcc    c.*480

          .         .         .         .         .  | 08      .    g.15370
 atcaccgcatgagaggatccagatgatgattcttccctgctgggcttgtag | ctggcacat    c.*540

          .         .         .         .          | 09        .    g.16481
 gctactatgcgtttgtaatcagagtttccgtagcctctgtagtgggatg | cttcaatatcc    c.*600

          .         .         .         .         .         .       g.16541
 tgagtatcgattttcaaataaaagctgcaaacttcctcagaggtactggttttgtgaact       c.*660

          .  | 10      .         .         .         .         .    g.18279
 acagttgttac | atgtactgtagccaagccactgccaaatcctgtactgacaatgaggtca    c.*720

          .     | 11   .         .         .         .         .    g.21125
 tcattgagaagcac | ctctactggcctcccaaggaaattcttgtctgtcattttataatta    c.*780

          .         .         .         .         .         .       g.21185
 tgtaaggcacctttatgcttgtaagaaacatcgatgtccatactcaagcggagttgttta       c.*840

          .         .         .         .        | 12.         .    g.23013
 accaggagtgaatattccgtcaggccctcaatggcattgattgtgtc | ctgggttgaataa    c.*900

          .         .         .         .         .         .       g.23073
 aagccacctccatacctctgctcttctgatagccatttgatgactgggttaacataattt       c.*960

          .         .         .         .         .         .       g.23133
 atatctttcaagttcagactggtgagtaaagcataggcagttgtttctaccatacgtgcc       c.*1020

          .         .         .         .         .         .       g.23193
 gtaccagtgttaggtacagagctgtctttatgctgaagattgtctttccaaaaacgataa       c.*1080

          .    | 13    .         .         .         .         .    g.26430
 atgggtggattac | ctttaaccaaagcttctctcttcaaagctgaaacaattgaacgaaac    c.*1140

          .         .         .         .         .         .       g.26490
 tgtgggtgagttttatctcccagggaaagagcatacgcagaaatggccaatgtaaaggtg       c.*1200

          .         .         .         .         .         .       g.26550
 ctctgggctggcagtgtattttcaagcagaaagttgtcagctttaattagagctgtgtcg       c.*1260

       | 14  .         .         .         .         .         .    g.28199
 atttt | caccagggggcatatatcgaaagcctttctaattccaatcacagtaaaggctgta    c.*1320

          .         .         .         .  | 15      .         .    g.28974
 agatataagctgttctctcgggcttcaacaggcaaggtacc | ctgtaattttattggttga    c.*1380

          .         .         .         .         .         .       g.29034
 tactgtgaattttccttgaaagatccattatctaattgataattctcaactagccacaat       c.*1440

          .         .         .         .         .         .       g.29094
 aaagaattacaaattgaattttggttctgctctacgtatttatttacttgtccaagtact       c.*1500

          .         .  | 16      .         .         .         .    g.35385
 cttaaagcaaaagctgttaac | caagtgctagcacttccacccttccacacactgtaagag    c.*1560

          .         .         .        | 17.         .         .    g.35891
 tagtcagcatttctgtaggacataatgctcaacatcc | cttcttttaattttttcttcagt    c.*1620

          .         .         .         .         .         .       g.35951
 ttctgcttttcaattaatgggtcagaatgaaaaatgttccaatgatttcctgtttccagg       c.*1680

          .         .         .         .         .         .       g.36011
 tagtgaaaaacatagaatactgggacaacgctcatcagctccgcctctgcactccctttg       c.*1740

          .         .         .         .         .         .       g.36071
 gggaggtgggttaggatattgatgccttcctgacttagaactgcagacaagatctcacct       c.*1800

          . | 18       .         .         .         .         .    g.37541
 acaagcagtc | cttttacactcaaaatccttttgatttctgttttggggaccaaatctaag    c.*1860

          .         .         .         . | 19       .         .    g.42560
 ggtatcctgtatgggaactcctttcgtctgctaatggtac | cataaatacccctaggatcc    c.*1920

          .         .         .         .  | 20      .         .    g.43866
 aaagtaacaccagaatagctttcccttttgacaccttctgg | caccactcgtaatgttttt    c.*1980

          .         .         .         .         .         .       g.43926
 actaagatttcttttccaaaccaagtctccagtgaaaaattgatgttgtgaaggccaatt       c.*2040

          .         .         .         .         .         .       g.43986
 tccagaggaagcacagtgaatgtcaccaagtgactggaggagccctctactttctggcgc       c.*2100

          .         .         .         .         .         .       g.44046
 acacatttggaggactttgtgccctgatgatcaatgactgggctttccgaagtgcagatt       c.*2160

          .         .          | 21        .         .         .    g.52250
 ccctccacagcagacattttaacacagaa | ctgcatcccagaagtcctatagttgtaaaca    c.*2220

          .         .         .         .         .         .       g.52310
 gttcctttcaattggatctgttctcctcgtacaacagaatatggtatattcatttccagg       c.*2280

          .         .         .         .          | 22        .    g.53215
 aagacatctttgaacacctttgccttgacagtatcagcaacacatatac | cagtgtttgaa    c.*2340

          .         .         .         .         .         .       g.53275
 atgccaacgccttgaatttcccaggtggttagagaatcaggtagggcaaactgcaactgt       c.*2400

     | 23    .         .         .         .         .         .    g.54765
 ttt | cttctgggaacaagatgaacttcccacaaccagctttctggaaaataactccgaatt    c.*2460

          .         .         .     | 24   .         .         .    g.60199
 tctggcttgcttactggtaacagggtcttcatgt | gtagccttcccaattgcatgtcttta    c.*2520

          .         .         .         .         .         .       g.60259
 tgagagatattagcacggagctggcttgcgacgacacaacattcagtgaaagctttgatg       c.*2580

          .         .         .         .         .         .       g.60319
 catcttggccctaaactaatccgtgcagctcgctgctcacaggtttcatcattattaacg       c.*2640

          .         .         .         .         .   | 25     .    g.61507
 caggctccatcgtaacaacatttcttcactactgaatgtttatatttagcag | ctatttct    c.*2700

          .         .         .         .         .      | 26  .    g.62559
 tctatcttcttttgcagcgttcttcttggcctgagaatttctttacaaggttcat | cattt    c.*2760

          .         .         .         .         .         .       g.62619
 tcttgggagtcatctgcatttgcattagtgaggaaggtaagtccagctaggtggaacaca       c.*2820

          .         .         .         .         .         .       g.62679
 ttggcattgttgaggccaccacctgccccacagcccagatcactcttctctaagaattga       c.*2880

       | 27  .         .         .         .         .         .    g.63717
 aatac | tctttccaagggctttttggctcctctttggactccatacacagcactgtccact    c.*2940

          .         .         .         .         .         .       g.63777
 gctgctaatgccacccaggaatccattccagttgccatattaagagacacagtttggcct       c.*3000

          .         .         .      | 28  .         .         .    g.63968
 ggagaatatgcatctgcatcaggagacagatgaac | ctggagctggttgccacatttttct    c.*3060

          .         .         .         .         .         .       g.64028
 tcaatatttaaccagactgaatcagacactaattctgctgtctgttctcctgtgacgatg       c.*3120

          .         .         .         .         .         .       g.64088
 taatagaccagaagtcgggatgaaggaaccatgttctgtgttactggaatgtttatactt       c.*3180

          .         .         .         .         .         .       g.64148
 tgataagatgcatctgaaaatttctccctcgtgccaaagtggataattttgcccttggat       c.*3240

       | 29  .         .         .         .         .         .    g.66331
 aaaat | caagtaattatagtgagttattttgtcaatatatgggcttttgggggtaacaata    c.*3300

          .         .         .         .         .         .       g.66391
 atattcagatgttctcccactagcaaagccttatggttatcagtccaatcaatataaagg       c.*3360

          .         .         .         .         .         .       g.66451
 taactttggctgagagatgagtatgctattgctcggtaaccttccctggcctgattttct       c.*3420

          .         .          | 30        .         .         .    g.67840
 tctggaagatctggagcatcagttttgac | attaaactccagcaccgtcactccagatggg    c.*3480

          .         .         .         .         .         .       g.67900
 agattaagcacaaaggaagctactccatcatcaacacgtgttacacttttgcttggatcc       c.*3540

          .         .         .         .         .         .       g.67960
 aagtcagatgtctcttggtttacatcaattgtttgtgcattcagtgttactgggactcct       c.*3600

          .         .         .      | 31  .         .         .    g.69729
 cctaccaactggtcaagcgaatctttaacctgcac | cttgatgggatatggaatcccaggc    c.*3660

          .         .         .         .         .         .       g.69789
 ttcaggaaaagaggagtagcaaccaaattcagtttgtagggagagaggacatatttgatg       c.*3720

          .         .         .  | 32      .         .         .    g.71783
 ccaggtatttctgcctcttcagaaaatccac | ctgtagactctatgactgttacagcaata    c.*3780

          .         .         .         .         .         .       g.71843
 taaaggtacttgttgtttaaatcttctaaactgtagtatgacagttctttgactgctgtt       c.*3840

          .         .         .         | 33         .         .    g.73482
 tcagaatcaaatgtgacttgagcaattccatttatcaa | cattgtgttttgcattgctgtt    c.*3900

          .         .         .         .         .         .       g.73542
 tgcatcatttctttttgatcatcttttaagtcttctcttattccaaatgtgatataaacg       c.*3960

          .         .         .    | 34    .         .         .    g.76724
 tcagcctcagtgactactttattataaaaatat | cttgcttttatagtaatttcaaaattc    c.*4020

          .         .         .         .         .         .       g.76784
 ttaaagttcttgtaaccaatgaaattatattctggctcgattgagacagaaaaatgtggc       c.*4080

      | 35   .         .         .         .         .         .    g.78469
 aaga | catattctttaacttcaaaatatgcggttccagttgttgaaaagtcctctttatat    c.*4140

          .         .        | 36.         .         .         .    g.81136
 ttagccttgatcgtccacataccatat | ctaggattagacggaatcttgaagtcaggaaaa    c.*4200

          .         .         .         .         .          | 37    g.84182
 gagataattccaatatgatcaatttcttctaccatgtcaacttctgatccttcaggatc | t    c.*4260

          .         .         .         .         .         .       g.84242
 atgaaagttaagacagtttctcttttggctggcttcaagtcgtcattcaacgaataaact       c.*4320

          . | 38       .         .         .         .         .    g.89354
 ctaactttta | ctgactggtctggagtataaacaggtttgtctgtatgaatgaagagaaat    c.*4380

          .         .         .         .         .         .       g.89414
 ccattgtcataggttattggcattctttttgattttgaaaaatgctttgatacaacttcc       c.*4440

          .         .         .         .         .    | 39    .    g.92498
 aaatacacataagaaactgggttttgtcctccaggcaattgttttggttgtat | tgttaag    c.*4500

          .         .         .         .         .         .       g.92558
 attgcagagttttggaatttattctctgaggataaatgaacatggcctgaggagtaacta       c.*4560

          .         .         .         .         .         .       g.92618
 aattttttatcaggataacttttaatagagattgttgcatcaaatgcttcagtgtatcca       c.*4620

          .         .         .         .         .         .       g.92678
 taaacttgaatcacaatattttcagatgctccaacacggaatatttttggtgctgaaatg       c.*4680

        | 40 .         .         .         .         .         .    g.96536
 acatat | gtttgctcctgtccccaggttttccccaggaagattaaaaaacaaagtattccc    c.*4740

          .         .         .         .  | 41      .         .                      g.96596
 aaaaggcccatggttggaggtagcaggaaaccacggatata | t                      c.*4782

 (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 5 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.