complement factor D (adipsin) (CFD) - 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 CFD gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering CFD transcript NM_001928.2.

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

 (upstream sequence)
                                         .         .                g.1620
                                    gtgtctcagccacagcggcttcacc       c.-1

          .         .         .         .         .      | 02  .    g.2552
 ATGCACAGCTGGGAGCGCCTGGCAGTTCTGGTCCTCCTAGGAGCGGCCGCCTGCG | CGGCG    c.60
 M  H  S  W  E  R  L  A  V  L  V  L  L  G  A  A  A  C  A |   A      p.20

          .         .         .         .         .         .       g.2612
 CCGCCCCGTGGTCGGATCCTGGGCGGCAGAGAGGCCGAGGCGCACGCGCGGCCCTACATG       c.120
 P  P  R  G  R  I  L  G  G  R  E  A  E  A  H  A  R  P  Y  M         p.40

          .         .         .         .         .         .       g.2672
 GCGTCGGTGCAGCTGAACGGCGCGCACCTGTGCGGCGGCGTCCTGGTGGCGGAGCAGTGG       c.180
 A  S  V  Q  L  N  G  A  H  L  C  G  G  V  L  V  A  E  Q  W         p.60

          .         .         .   | 03     .         .         .    g.2819
 GTGCTGAGCGCGGCGCACTGCCTGGAGGACGC | GGCCGACGGGAAGGTGCAGGTTCTCCTG    c.240
 V  L  S  A  A  H  C  L  E  D  A  |  A  D  G  K  V  Q  V  L  L      p.80

          .         .         .         .         .         .       g.2879
 GGCGCGCACTCCCTGTCGCAGCCGGAGCCCTCCAAGCGCCTGTACGACGTGCTCCGCGCA       c.300
 G  A  H  S  L  S  Q  P  E  P  S  K  R  L  Y  D  V  L  R  A         p.100

          .         .         .         .         .        | 04.    g.3632
 GTGCCCCACCCGGACAGCCAGCCCGACACCATCGACCACGACCTCCTGCTGCTACAG | CTG    c.360
 V  P  H  P  D  S  Q  P  D  T  I  D  H  D  L  L  L  L  Q   | L      p.120

          .         .         .         .         .         .       g.3692
 TCGGAGAAGGCCACACTGGGCCCTGCTGTGCGCCCCCTGCCCTGGCAGCGCGTGGACCGC       c.420
 S  E  K  A  T  L  G  P  A  V  R  P  L  P  W  Q  R  V  D  R         p.140

          .         .         .         .         .         .       g.3752
 GACGTGGCACCGGGAACTCTCTGCGACGTGGCCGGCTGGGGCATAGTCAACCACGCGGGC       c.480
 D  V  A  P  G  T  L  C  D  V  A  G  W  G  I  V  N  H  A  G         p.160

          .         .         .         .         .         .       g.3812
 CGCCGCCCGGACAGCCTGCAGCACGTGCTCTTGCCAGTGCTGGACCGCGCCACCTGCAAC       c.540
 R  R  P  D  S  L  Q  H  V  L  L  P  V  L  D  R  A  T  C  N         p.180

          .         .         .         .         .         .       g.3872
 CGGCGCACGCACCACGACGGCGCCATCACCGAGCGCTTGATGTGCGCGGAGAGCAATCGC       c.600
 R  R  T  H  H  D  G  A  I  T  E  R  L  M  C  A  E  S  N  R         p.200

          .      | 05  .         .         .         .         .    g.5067
 CGGGACAGCTGCAAG | GGTGACTCCGGGGGCCCGCTGGTGTGCGGGGGCGTGCTCGAGGGC    c.660
 R  D  S  C  K   | G  D  S  G  G  P  L  V  C  G  G  V  L  E  G      p.220

          .         .         .         .         .         .       g.5127
 GTGGTCACCTCGGGCTCGCGCGTTTGCGGCAACCGCAAGAAGCCCGGGATCTACACCCGC       c.720
 V  V  T  S  G  S  R  V  C  G  N  R  K  K  P  G  I  Y  T  R         p.240

          .         .         .         .                           g.5169
 GTGGCGAGCTATGCGGCCTGGATCGACAGCGTCCTGGCCTAG                         c.762
 V  A  S  Y  A  A  W  I  D  S  V  L  A  X                           p.253

          .         .         .         .         .         .       g.5229
 ggtgccggggcctgaaggtcagggtcacccaagcaacaaagtcccgagcaatgaagtcat       c.*60

          .         .         .         .         .         .       g.5289
 ccactcctgcatctggttggtctttattgagcacctactatatgcagaaggggaggccga       c.*120

          .         .         .         .         .         .       g.5349
 ggtgggaggatcattggatctcaggagttcgagatcagcatgggccacgtagcgcgactc       c.*180

          .         .         .         .         .         .       g.5409
 catctctacaaataaataaaaaattagctgggcaattggcgggcatggaggtgggtgctt       c.*240

          .         .         .         .         .         .       g.5469
 gtagttccagctactcaggaggctgaggtgggaggatgacttgaacgcaggaggctgagg       c.*300

          .         .         .         .         .         .       g.5529
 ctgcagtgagttgtgattgcaccactgccctccagcctgggcaacagagtgaaaccttgt       c.*360

          .         .                                               g.5555
 ctctctctacaaaaaaaaaaaaaaaa                                         c.*386

 (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 factor D (adipsin) 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.