complement factor properdin (CFP) - coding DNA reference sequence

(used for variant description)

(last modified October 4, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_002621.2 in the CFP gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009893.1, covering CFP transcript NM_002621.2.

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

 (upstream sequence)
                                                                    g.5002
                                                           ga       c.-241

 .         .         .         .         .         .                g.5062
 gcaccgcacactcacttcaccctggttcaacacccccacgaggttgaccccgtcattatg       c.-181

 .         .         .         .         .         .                g.5122
 ttagagattatgcattttccacatagggaaactgaggctcaggggtgttaagtgactcac       c.-121

 .         .         .         .         .         .     | 02       g.5401
 ccaaggtcacacggctaggaagttgctgcacgctcctatgctccatttcctctgg | gagcc    c.-61

 .         .         .         .         .         .                g.5461
 tatcaacccagataaagcgggacctcctctctggtagaggtgcagggggcagtactcaac       c.-1

          .         .         .         .         .         .       g.5521
 ATGATCACAGAGGGAGCGCAGGCCCCTCGATTGTTGCTGCCGCCGCTGCTCCTGCTGCTC       c.60
 M  I  T  E  G  A  Q  A  P  R  L  L  L  P  P  L  L  L  L  L         p.20

          .       | 03 .         .         .         .         .    g.5675
 ACCCTGCCAGCCACAG | GCTCAGACCCCGTGCTCTGCTTCACCCAGTATGAAGAATCCTCC    c.120
 T  L  P  A  T  G |   S  D  P  V  L  C  F  T  Q  Y  E  E  S  S      p.40

          .         .         .         .         .         .       g.5735
 GGCAAGTGCAAGGGCCTCCTGGGGGGTGGTGTCAGCGTGGAAGACTGCTGTCTCAACACT       c.180
 G  K  C  K  G  L  L  G  G  G  V  S  V  E  D  C  C  L  N  T         p.60

          .         .         .         .        | 04.         .    g.7041
 GCCTTTGCCTACCAGAAACGTAGTGGTGGGCTCTGTCAGCCTTGCAG | GTCCCCACGATGG    c.240
 A  F  A  Y  Q  K  R  S  G  G  L  C  Q  P  C  R  |  S  P  R  W      p.80

          .         .         .         .         .         .       g.7101
 TCCCTGTGGTCCACATGGGCCCCCTGTTCGGTGACGTGCTCTGAGGGCTCCCAGCTGCGG       c.300
 S  L  W  S  T  W  A  P  C  S  V  T  C  S  E  G  S  Q  L  R         p.100

          .         .         .         .         .         .       g.7161
 TACCGGCGCTGTGTGGGCTGGAATGGGCAGTGCTCTGGAAAGGTGGCACCTGGGACCCTG       c.360
 Y  R  R  C  V  G  W  N  G  Q  C  S  G  K  V  A  P  G  T  L         p.120

          .         .         .         .    | 05    .         .    g.7681
 GAGTGGCAGCTCCAGGCCTGTGAGGACCAGCAGTGCTGTCCTG | AGATGGGCGGCTGGTCT    c.420
 E  W  Q  L  Q  A  C  E  D  Q  Q  C  C  P  E |   M  G  G  W  S      p.140

          .         .         .         .         .         .       g.7741
 GGCTGGGGGCCCTGGGAGCCTTGCTCTGTCACCTGCTCCAAAGGGACCCGGACCCGCAGG       c.480
 G  W  G  P  W  E  P  C  S  V  T  C  S  K  G  T  R  T  R  R         p.160

          .         .         .         .         .         .       g.7801
 CGAGCCTGTAATCACCCTGCTCCCAAGTGTGGGGGCCACTGCCCAGGACAGGCACAGGAA       c.540
 R  A  C  N  H  P  A  P  K  C  G  G  H  C  P  G  Q  A  Q  E         p.180

          .         .         .     | 06   .         .         .    g.7999
 TCAGAGGCCTGTGACACCCAGCAGGTCTGCCCCA | CACACGGGGCCTGGGCCACCTGGGGC    c.600
 S  E  A  C  D  T  Q  Q  V  C  P  T |   H  G  A  W  A  T  W  G      p.200

          .         .         .         .         .         .       g.8059
 CCCTGGACCCCCTGCTCAGCCTCCTGCCACGGTGGACCCCACGAACCTAAGGAGACACGA       c.660
 P  W  T  P  C  S  A  S  C  H  G  G  P  H  E  P  K  E  T  R         p.220

          .         .         .         .         .         .       g.8119
 AGCCGCAAGTGTTCTGCACCTGAGCCCTCCCAGAAACCTCCTGGGAAGCCCTGCCCGGGG       c.720
 S  R  K  C  S  A  P  E  P  S  Q  K  P  P  G  K  P  C  P  G         p.240

          .         .         .         .       | 07 .         .    g.8373
 CTAGCCTACGAGCAGCGGAGGTGCACCGGCCTGCCACCCTGCCCAG | TGGCTGGGGGCTGG    c.780
 L  A  Y  E  Q  R  R  C  T  G  L  P  P  C  P  V |   A  G  G  W      p.260

          .         .         .         .         .         .       g.8433
 GGGCCTTGGGGCCCTGTGAGCCCCTGCCCTGTGACCTGTGGCCTGGGCCAGACCATGGAA       c.840
 G  P  W  G  P  V  S  P  C  P  V  T  C  G  L  G  Q  T  M  E         p.280

          .         .         .         .         .         .       g.8493
 CAACGGACGTGCAATCACCCTGTGCCCCAGCATGGGGGCCCCTTCTGTGCTGGCGATGCC       c.900
 Q  R  T  C  N  H  P  V  P  Q  H  G  G  P  F  C  A  G  D  A         p.300

          .         .         .         . | 08       .         .    g.8806
 ACCCGGACCCACATCTGCAACACAGCTGTGCCCTGCCCTG | TGGATGGGGAGTGGGACTCG    c.960
 T  R  T  H  I  C  N  T  A  V  P  C  P  V |   D  G  E  W  D  S      p.320

          .         .         .         .         .         .       g.8866
 TGGGGGGAGTGGAGCCCCTGTATCCGACGGAACATGAAGTCCATCAGCTGTCAAGAAATC       c.1020
 W  G  E  W  S  P  C  I  R  R  N  M  K  S  I  S  C  Q  E  I         p.340

          .         .         .         .         .         .       g.8926
 CCGGGCCAGCAGTCACGCGGGAGGACCTGCAGGGGCCGCAAGTTTGACGGACATCGATGT       c.1080
 P  G  Q  Q  S  R  G  R  T  C  R  G  R  K  F  D  G  H  R  C         p.360

          .         .         .         .         .   | 09     .    g.9144
 GCCGGGCAACAGCAGGATATCCGGCACTGCTACAGCATCCAGCACTGCCCCT | TGAAAGGA    c.1140
 A  G  Q  Q  Q  D  I  R  H  C  Y  S  I  Q  H  C  P  L |   K  G      p.380

          .         .         .         .         .         .       g.9204
 TCATGGTCAGAGTGGAGTACCTGGGGGCTGTGCATGCCCCCCTGTGGACCTAATCCTACC       c.1200
 S  W  S  E  W  S  T  W  G  L  C  M  P  P  C  G  P  N  P  T         p.400

          .         .         .         .     | 10   .         .    g.10881
 CGTGCCCGCCAGCGCCTCTGCACACCCTTGCTCCCCAAGTACCC | GCCCACCGTTTCCATG    c.1260
 R  A  R  Q  R  L  C  T  P  L  L  P  K  Y  P  |  P  T  V  S  M      p.420

          .         .         .         .         .         .       g.10941
 GTCGAAGGTCAGGGCGAGAAGAACGTGACCTTCTGGGGGAGACCGCTGCCACGGTGTGAG       c.1320
 V  E  G  Q  G  E  K  N  V  T  F  W  G  R  P  L  P  R  C  E         p.440

          .         .         .         .         .         .       g.11001
 GAGCTACAAGGGCAGAAGCTGGTGGTGGAGGAGAAACGACCATGTCTACACGTGCCTGCT       c.1380
 E  L  Q  G  Q  K  L  V  V  E  E  K  R  P  C  L  H  V  P  A         p.460

          .         .         .                                     g.11031
 TGCAAAGACCCTGAGGAAGAGGAACTCTAA                                     c.1410
 C  K  D  P  E  E  E  E  L  X                                       p.469

          .         .         .         .         .         .       g.11091
 cacttctctcctccactctgagccccctgaccttccaaacctcaataaactagcctcttc       c.*60

                                                                    g.11093
 ga                                                                 c.*62

 (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 properdin 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.