complement component 1, s subcomponent (C1S) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)


This file was created to facilitate the description of sequence variants in the C1S gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering C1S transcript NM_201442.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.1164
                                                          gtt       c.-361

 .         .         .         .         .         .                g.1224
 tagatcagggaatttcagacatgcacactcgggtagggaatcttatgaacagaaccagga       c.-301

 .         .         .         .         .         .                g.1284
 cagggaggctggccggaggttcctgcagagggagcgtcaaggccctgtgctgctgtccct       c.-241

 .         .         .         .         .         .                g.1344
 gggggccagaggggttgcccagcatgcccactggcaggagagagggaactgacccacttg       c.-181

 .         .         | 02         .         .         .             g.2278
 ctcctaccagcttctgaag | gtgacactgagccccaggtgacgccgcaccaccaaagaagg    c.-121

 .         .         .         .         .         .                g.2338
 tgcttgtgtttgtcagacaaatacagccaggcctgccaccccttaggctccaaagtccgg       c.-61

 .         .         .         .         .         .                g.2398
 aggtgcagaaagccaggaccaagagacaggcagctcaccagggtggacaaatcgccagag       c.-1

       | 03  .         .         .         .         .         .    g.3015
 ATGTG | GTGCATTGTCCTGTTTTCACTTTTGGCATGGGTTTATGCTGAGCCTACCATGTAT    c.60
 M  W  |  C  I  V  L  F  S  L  L  A  W  V  Y  A  E  P  T  M  Y      p.20

          .         .         .         .         .         .       g.3075
 GGGGAGATCCTGTCCCCTAACTATCCTCAGGCATATCCCAGTGAGGTAGAGAAATCTTGG       c.120
 G  E  I  L  S  P  N  Y  P  Q  A  Y  P  S  E  V  E  K  S  W         p.40

          .         .         .         .         .         .       g.3135
 GACATAGAAGTTCCTGAAGGGTATGGGATTCACCTCTACTTCACCCATCTGGACATTGAG       c.180
 D  I  E  V  P  E  G  Y  G  I  H  L  Y  F  T  H  L  D  I  E         p.60

          .         .         .    | 04    .         .         .    g.3402
 CTGTCAGAGAACTGTGCGTATGACTCAGTGCAG | ATAATCTCAGGAGACACTGAAGAAGGG    c.240
 L  S  E  N  C  A  Y  D  S  V  Q   | I  I  S  G  D  T  E  E  G      p.80

          .         .         .         .         .         .       g.3462
 AGGCTCTGTGGACAGAGGAGCAGTAACAATCCCCACTCTCCAATTGTGGAAGAGTTCCAA       c.300
 R  L  C  G  Q  R  S  S  N  N  P  H  S  P  I  V  E  E  F  Q         p.100

          .         .         .         .         .         .       g.3522
 GTCCCATACAACAAACTCCAGGTGATCTTTAAGTCAGACTTTTCCAATGAAGAGCGTTTT       c.360
 V  P  Y  N  K  L  Q  V  I  F  K  S  D  F  S  N  E  E  R  F         p.120

          .         .         .  | 05      .         .         .    g.4781
 ACGGGGTTTGCTGCATACTATGTTGCCACAG | ACATAAATGAATGCACAGATTTTGTAGAT    c.420
 T  G  F  A  A  Y  Y  V  A  T  D |   I  N  E  C  T  D  F  V  D      p.140

          .         .         .         .         .         .       g.4841
 GTCCCTTGTAGCCACTTCTGCAACAATTTCATTGGTGGTTACTTCTGCTCCTGCCCCCCG       c.480
 V  P  C  S  H  F  C  N  N  F  I  G  G  Y  F  C  S  C  P  P         p.160

          .         .         .        | 06.         .         .    g.5608
 GAATATTTCCTCCATGATGACATGAAGAATTGCGGAG | TTAATTGCAGTGGGGATGTATTC    c.540
 E  Y  F  L  H  D  D  M  K  N  C  G  V |   N  C  S  G  D  V  F      p.180

          .         .         .         .         .         .       g.5668
 ACTGCACTGATTGGGGAGATTGCAAGTCCCAATTATCCCAAACCATATCCAGAGAACTCA       c.600
 T  A  L  I  G  E  I  A  S  P  N  Y  P  K  P  Y  P  E  N  S         p.200

          .         .         .         .         .         .       g.5728
 AGGTGTGAATACCAGATCCGGTTGGAGAAAGGGTTCCAAGTGGTGGTGACCTTGCGGAGA       c.660
 R  C  E  Y  Q  I  R  L  E  K  G  F  Q  V  V  V  T  L  R  R         p.220

          .         .         .         .         .        | 07.    g.6305
 GAAGATTTTGATGTGGAAGCAGCTGACTCAGCGGGAAACTGCCTTGACAGTTTAGTT | TTT    c.720
 E  D  F  D  V  E  A  A  D  S  A  G  N  C  L  D  S  L  V   | F      p.240

          .         .         .         .         .         .       g.6365
 GTTGCAGGAGATCGGCAATTTGGTCCTTACTGTGGTCATGGATTCCCTGGGCCTCTAAAT       c.780
 V  A  G  D  R  Q  F  G  P  Y  C  G  H  G  F  P  G  P  L  N         p.260

          .         .         .         .         .         .       g.6425
 ATTGAAACCAAGAGTAATGCTCTTGATATCATCTTCCAAACTGATCTAACAGGGCAAAAA       c.840
 I  E  T  K  S  N  A  L  D  I  I  F  Q  T  D  L  T  G  Q  K         p.280

          .         .         .  | 08      .         .         .    g.7032
 AAGGGCTGGAAACTTCGCTATCATGGAGATC | CAATGCCCTGCCCTAAGGAAGACACTCCC    c.900
 K  G  W  K  L  R  Y  H  G  D  P |   M  P  C  P  K  E  D  T  P      p.300

          .         .         .         .         .         .       g.7092
 AATTCTGTTTGGGAGCCTGCGAAGGCAAAATATGTCTTTAGAGATGTGGTGCAGATAACC       c.960
 N  S  V  W  E  P  A  K  A  K  Y  V  F  R  D  V  V  Q  I  T         p.320

          .         .        | 09.         .         .         .    g.7557
 TGTCTGGATGGGTTTGAAGTTGTGGAG | GGACGTGTTGGTGCAACATCTTTCTATTCGACT    c.1020
 C  L  D  G  F  E  V  V  E   | G  R  V  G  A  T  S  F  Y  S  T      p.340

          .         .         .         .       | 10 .         .    g.8142
 TGTCAAAGCAATGGAAAGTGGAGTAATTCCAAACTGAAATGTCAAC | CTGTGGACTGTGGC    c.1080
 C  Q  S  N  G  K  W  S  N  S  K  L  K  C  Q  P |   V  D  C  G      p.360

          .         .         .         .         .         .       g.8202
 ATTCCTGAATCCATTGAGAATGGTAAAGTTGAAGACCCAGAGAGCACTTTGTTTGGTTCT       c.1140
 I  P  E  S  I  E  N  G  K  V  E  D  P  E  S  T  L  F  G  S         p.380

          .         .         .         .         .      | 11  .    g.8946
 GTCATCCGCTACACTTGTGAGGAGCCATATTACTACATGGAAAATGGAGGAGGTG | GGGAG    c.1200
 V  I  R  Y  T  C  E  E  P  Y  Y  Y  M  E  N  G  G  G  G |   E      p.400

          .         .         .         .         .         .       g.9006
 TATCACTGTGCTGGTAACGGGAGCTGGGTGAATGAGGTGCTGGGCCCGGAGCTGCCGAAA       c.1260
 Y  H  C  A  G  N  G  S  W  V  N  E  V  L  G  P  E  L  P  K         p.420

          . | 12       .         .         .         .         .    g.10390
 TGTGTTCCAG | TCTGTGGAGTCCCCAGAGAACCCTTTGAAGAAAAACAGAGGATAATTGGA    c.1320
 C  V  P  V |   C  G  V  P  R  E  P  F  E  E  K  Q  R  I  I  G      p.440

          .         .         .         .         .         .       g.10450
 GGATCCGATGCAGATATTAAAAACTTCCCCTGGCAAGTCTTCTTTGACAACCCATGGGCT       c.1380
 G  S  D  A  D  I  K  N  F  P  W  Q  V  F  F  D  N  P  W  A         p.460

          .         .         .         .         .         .       g.10510
 GGTGGAGCGCTCATTAATGAGTACTGGGTGCTGACGGCTGCTCATGTTGTGGAGGGAAAC       c.1440
 G  G  A  L  I  N  E  Y  W  V  L  T  A  A  H  V  V  E  G  N         p.480

          .         .         .         .         .         .       g.10570
 AGGGAGCCAACAATGTATGTTGGGTCCACCTCAGTGCAGACCTCACGGCTGGCAAAATCC       c.1500
 R  E  P  T  M  Y  V  G  S  T  S  V  Q  T  S  R  L  A  K  S         p.500

          .         .         .         .         .         .       g.10630
 AAGATGCTCACTCCTGAGCATGTGTTTATTCATCCGGGATGGAAGCTGCTGGAAGTCCCA       c.1560
 K  M  L  T  P  E  H  V  F  I  H  P  G  W  K  L  L  E  V  P         p.520

          .         .         .         .         .         .       g.10690
 GAAGGACGAACCAATTTTGATAATGACATTGCACTGGTGCGGCTGAAAGACCCAGTGAAA       c.1620
 E  G  R  T  N  F  D  N  D  I  A  L  V  R  L  K  D  P  V  K         p.540

          .         .         .         .         .         .       g.10750
 ATGGGACCCACCGTCTCTCCCATCTGCCTACCAGGCACCTCTTCCGACTACAACCTCATG       c.1680
 M  G  P  T  V  S  P  I  C  L  P  G  T  S  S  D  Y  N  L  M         p.560

          .         .         .         .         .         .       g.10810
 GATGGGGACCTGGGACTGATCTCAGGCTGGGGCCGAACAGAGAAGAGAGATCGTGCTGTT       c.1740
 D  G  D  L  G  L  I  S  G  W  G  R  T  E  K  R  D  R  A  V         p.580

          .         .         .         .         .         .       g.10870
 CGCCTCAAGGCGGCAAGGTTACCTGTAGCTCCTTTAAGAAAATGCAAAGAAGTGAAAGTG       c.1800
 R  L  K  A  A  R  L  P  V  A  P  L  R  K  C  K  E  V  K  V         p.600

          .         .         .         .         .         .       g.10930
 GAGAAACCCACAGCAGATGCAGAGGCCTATGTTTTCACTCCTAACATGATCTGTGCTGGA       c.1860
 E  K  P  T  A  D  A  E  A  Y  V  F  T  P  N  M  I  C  A  G         p.620

          .         .         .         .         .         .       g.10990
 GGAGAGAAGGGCATGGATAGCTGTAAAGGGGACAGTGGTGGGGCCTTTGCTGTACAGGAT       c.1920
 G  E  K  G  M  D  S  C  K  G  D  S  G  G  A  F  A  V  Q  D         p.640

          .         .         .         .         .         .       g.11050
 CCCAATGACAAGACCAAATTCTACGCAGCTGGCCTGGTGTCCTGGGGGCCCCAGTGTGGG       c.1980
 P  N  D  K  T  K  F  Y  A  A  G  L  V  S  W  G  P  Q  C  G         p.660

          .         .         .         .         .         .       g.11110
 ACCTATGGGCTCTACACACGGGTAAAGAACTATGTTGACTGGATAATGAAGACTATGCAG       c.2040
 T  Y  G  L  Y  T  R  V  K  N  Y  V  D  W  I  M  K  T  M  Q         p.680

          .         .                                               g.11137
 GAAAATAGCACCCCCCGTGAGGACTAA                                        c.2067
 E  N  S  T  P  R  E  D  X                                          p.688

          .         .         .         .         .         .       g.11197
 tccagatacatcccaccagcctctccaagggtggtgaccaatgcattaccttctgttcct       c.*60

          .         .         .         .         .         .       g.11257
 tatgatattctcattatttcatcatgactgaaagaagacacgagcgaatgatttaaatag       c.*120

          .         .         .         .         .         .       g.11317
 aacttgattgttgagacgccttgctagaggtagagtttgatcatagaattgtgctggtca       c.*180

          .         .         .         .         .         .       g.11377
 tacatttgtggtctgactccttggggtcctttccccggagtacctattgtagataacact       c.*240

          .         .         .         .         .         .       g.11437
 atgggtggggcactcctttcttgcactattccacagggataccttaattctttgtttcct       c.*300

          .         .         .         .         .         .       g.11497
 ctttacctgttcaaaattccatttacttgatcattctcagtatccactgtctatgtacaa       c.*360

          .         .                                               g.11518
 taaaggatgtttataagcaaa                                              c.*381

 (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 Complement component 1, s subcomponent 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 mutations, 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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