complement component 1, q subcomponent, A chain (C1QA) - 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 C1QA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering C1QA transcript NM_015991.2.

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

 (upstream sequence)
                                         .         .                g.1025
                                    gccactcctgctgggcagcccacag       c.-61

 .         .         .         .         .         .   | 02         g.1992
 ggtccctgggcggagggcaggagcatccagttggagttgacaacaggaggcag | aggcatc    c.-1

          .         .         .         .         .         .       g.2052
 ATGGAGGGTCCCCGGGGATGGCTGGTGCTCTGTGTGCTGGCCATATCGCTGGCCTCTATG       c.60
 M  E  G  P  R  G  W  L  V  L  C  V  L  A  I  S  L  A  S  M         p.20

          .         .         .         .         .         .       g.2112
 GTGACCGAGGACTTGTGCCGAGCACCAGACGGGAAGAAAGGGGAGGCAGGAAGACCTGGC       c.120
 V  T  E  D  L  C  R  A  P  D  G  K  K  G  E  A  G  R  P  G         p.40

          .         .         .         .    | 03    .         .    g.3225
 AGACGGGGGCGGCCAGGCCTCAAGGGGGAGCAAGGGGAGCCGG | GGGCCCCTGGCATCCGG    c.180
 R  R  G  R  P  G  L  K  G  E  Q  G  E  P  G |   A  P  G  I  R      p.60

          .         .         .         .         .         .       g.3285
 ACAGGCATCCAAGGCCTTAAAGGAGACCAGGGGGAACCTGGGCCCTCTGGAAACCCCGGC       c.240
 T  G  I  Q  G  L  K  G  D  Q  G  E  P  G  P  S  G  N  P  G         p.80

          .         .         .         .         .         .       g.3345
 AAGGTGGGCTACCCAGGGCCCAGCGGCCCCCTCGGAGCCCGTGGCATCCCGGGAATTAAA       c.300
 K  V  G  Y  P  G  P  S  G  P  L  G  A  R  G  I  P  G  I  K         p.100

          .         .         .         .         .         .       g.3405
 GGCACCAAGGGCAGCCCAGGAAACATCAAGGACCAGCCGAGGCCAGCCTTCTCCGCCATT       c.360
 G  T  K  G  S  P  G  N  I  K  D  Q  P  R  P  A  F  S  A  I         p.120

          .         .         .         .         .         .       g.3465
 CGGCGGAACCCCCCAATGGGGGGCAACGTGGTCATCTTCGACACGGTCATCACCAACCAG       c.420
 R  R  N  P  P  M  G  G  N  V  V  I  F  D  T  V  I  T  N  Q         p.140

          .         .         .         .         .         .       g.3525
 GAAGAACCGTACCAGAACCACTCCGGCCGATTCGTCTGCACTGTACCCGGCTACTACTAC       c.480
 E  E  P  Y  Q  N  H  S  G  R  F  V  C  T  V  P  G  Y  Y  Y         p.160

          .         .         .         .         .         .       g.3585
 TTCACCTTCCAGGTGCTGTCCCAGTGGGAAATCTGCCTGTCCATCGTCTCCTCCTCAAGG       c.540
 F  T  F  Q  V  L  S  Q  W  E  I  C  L  S  I  V  S  S  S  R         p.180

          .         .         .         .         .         .       g.3645
 GGCCAGGTCCGACGCTCCCTGGGCTTCTGTGACACCACCAACAAGGGGCTCTTCCAGGTG       c.600
 G  Q  V  R  R  S  L  G  F  C  D  T  T  N  K  G  L  F  Q  V         p.200

          .         .         .         .         .         .       g.3705
 GTGTCAGGGGGCATGGTGCTTCAGCTGCAGCAGGGTGACCAGGTCTGGGTTGAAAAAGAC       c.660
 V  S  G  G  M  V  L  Q  L  Q  Q  G  D  Q  V  W  V  E  K  D         p.220

          .         .         .         .         .         .       g.3765
 CCCAAAAAGGGTCACATTTACCAGGGCTCTGAGGCCGACAGCGTCTTCAGCGGCTTCCTC       c.720
 P  K  K  G  H  I  Y  Q  G  S  E  A  D  S  V  F  S  G  F  L         p.240

          .                                                         g.3783
 ATCTTCCCATCTGCCTGA                                                 c.738
 I  F  P  S  A  X                                                   p.245

          .         .         .         .         .         .       g.3843
 gccagggaaggaccccctcccccacccacctctctggcttccatgctccgcctgtaaaat       c.*60

          .         .         .         .         .         .       g.3903
 gggggcgctattgcttcagctgctgaagggagggggctggctctgagagccccaggactg       c.*120

          .         .         .         .         .         .       g.3963
 gctgccccgtgacacatgctctaagaagctcgtttcttagacctcttcctggaataaaca       c.*180

          .         .         .         .         .         .       g.4023
 tctgtgtctgtgtctgctgaacatgagcttcagttgctactcggagcattgagagggagg       c.*240

          .         .         .                                     g.4058
 cctaagaataataacaatccagtgcttaagagtca                                c.*275

 (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 1, q subcomponent, A chain 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.