protein C (inactivator of coagulation factors Va and VIIIa) (PROC) - coding DNA reference sequence

(used for variant description)

(last modified December 2, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_000312.3 in the PROC gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016323.1, covering PROC transcript NM_000312.3.

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

 (upstream sequence)
                               .         .         .                g.5034
                           atggattaactcgaactccaggctgtcatggcgg       c.-61

 .         .         .         .         | 02         .             g.6523
 caggacggcgaacttgcagtatctccacgacccgcccct | acaggtgccagtgcctccaga    c.-1

          .         .         .         .         .         .       g.6583
 ATGTGGCAGCTCACAAGCCTCCTGCTGTTCGTGGCCACCTGGGGAATTTCCGGCACACCA       c.60
 M  W  Q  L  T  S  L  L  L  F  V  A  T  W  G  I  S  G  T  P         p.20

          . | 03       .         .         .         .         .    g.7913
 GCTCCTCTTG | ACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGC    c.120
 A  P  L  D |   S  V  F  S  S  S  E  R  A  H  Q  V  L  R  I  R      p.40

          .         .         .         .         .         .       g.7973
 AAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATA       c.180
 K  R  A  N  S  F  L  E  E  L  R  H  S  S  L  E  R  E  C  I         p.60

          .         .         .         .         .        | 04.    g.9500
 GAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACA | CTG    c.240
 E  E  I  C  D  F  E  E  A  K  E  I  F  Q  N  V  D  D  T   | L      p.80

          .         .   | 05     .         .         .         .    g.9652
 GCCTTCTGGTCCAAGCACGTCG | ACGGTGACCAGTGCTTGGTCTTGCCCTTGGAGCACCCG    c.300
 A  F  W  S  K  H  V  D |   G  D  Q  C  L  V  L  P  L  E  H  P      p.100

          .         .         .         .         .         .       g.9712
 TGCGCCAGCCTGTGCTGCGGGCACGGCACGTGCATCGACGGCATCGGCAGCTTCAGCTGC       c.360
 C  A  S  L  C  C  G  H  G  T  C  I  D  G  I  G  S  F  S  C         p.120

          .         .         .         . | 06       .         .    g.9874
 GACTGCCGCAGCGGCTGGGAGGGCCGCTTCTGCCAGCGCG | AGGTGAGCTTCCTCAATTGC    c.420
 D  C  R  S  G  W  E  G  R  F  C  Q  R  E |   V  S  F  L  N  C      p.140

          .         .         .         .         .         .       g.9934
 TCGCTGGACAACGGCGGCTGCACGCATTACTGCCTAGAGGAGGTGGGCTGGCGGCGCTGT       c.480
 S  L  D  N  G  G  C  T  H  Y  C  L  E  E  V  G  W  R  R  C         p.160

          .         .         .         .         .      | 07  .    g.12670
 AGCTGTGCGCCTGGCTACAAGCTGGGGGACGACCTCCTGCAGTGTCACCCCGCAG | TGAAG    c.540
 S  C  A  P  G  Y  K  L  G  D  D  L  L  Q  C  H  P  A  V |   K      p.180

          .         .         .         .         .         .       g.12730
 TTCCCTTGTGGGAGGCCCTGGAAGCGGATGGAGAAGAAGCGCAGTCACCTGAAACGAGAC       c.600
 F  P  C  G  R  P  W  K  R  M  E  K  K  R  S  H  L  K  R  D         p.200

          .         .         .         .         .         .       g.12790
 ACAGAAGACCAAGAAGACCAAGTAGATCCGCGGCTCATTGATGGGAAGATGACCAGGCGG       c.660
 T  E  D  Q  E  D  Q  V  D  P  R  L  I  D  G  K  M  T  R  R         p.220

          .         | 08         .         .         .         .    g.13727
 GGAGACAGCCCCTGGCAG | GTGGTCCTGCTGGACTCAAAGAAGAAGCTGGCCTGCGGGGCA    c.720
 G  D  S  P  W  Q   | V  V  L  L  D  S  K  K  K  L  A  C  G  A      p.240

          .         .         .         .         .         .       g.13787
 GTGCTCATCCACCCCTCCTGGGTGCTGACAGCGGCCCACTGCATGGATGAGTCCAAGAAG       c.780
 V  L  I  H  P  S  W  V  L  T  A  A  H  C  M  D  E  S  K  K         p.260

          .       | 09 .         .         .         .         .    g.14981
 CTCCTTGTCAGGCTTG | GAGAGTATGACCTGCGGCGCTGGGAGAAGTGGGAGCTGGACCTG    c.840
 L  L  V  R  L  G |   E  Y  D  L  R  R  W  E  K  W  E  L  D  L      p.280

          .         .         .         .         .         .       g.15041
 GACATCAAGGAGGTCTTCGTCCACCCCAACTACAGCAAGAGCACCACCGACAATGACATC       c.900
 D  I  K  E  V  F  V  H  P  N  Y  S  K  S  T  T  D  N  D  I         p.300

          .         .         .         .         .         .       g.15101
 GCACTGCTGCACCTGGCCCAGCCCGCCACCCTCTCGCAGACCATAGTGCCCATCTGCCTC       c.960
 A  L  L  H  L  A  Q  P  A  T  L  S  Q  T  I  V  P  I  C  L         p.320

          .         .         .         .         .         .       g.15161
 CCGGACAGCGGCCTTGCAGAGCGCGAGCTCAATCAGGCCGGCCAGGAGACCCTCGTGACG       c.1020
 P  D  S  G  L  A  E  R  E  L  N  Q  A  G  Q  E  T  L  V  T         p.340

          .         .         .         .         .         .       g.15221
 GGCTGGGGCTACCACAGCAGCCGAGAGAAGGAGGCCAAGAGAAACCGCACCTTCGTCCTC       c.1080
 G  W  G  Y  H  S  S  R  E  K  E  A  K  R  N  R  T  F  V  L         p.360

          .         .         .         .         .         .       g.15281
 AACTTCATCAAGATTCCCGTGGTCCCGCACAATGAGTGCAGCGAGGTCATGAGCAACATG       c.1140
 N  F  I  K  I  P  V  V  P  H  N  E  C  S  E  V  M  S  N  M         p.380

          .         .         .         .         .         .       g.15341
 GTGTCTGAGAACATGCTGTGTGCGGGCATCCTCGGGGACCGGCAGGATGCCTGCGAGGGC       c.1200
 V  S  E  N  M  L  C  A  G  I  L  G  D  R  Q  D  A  C  E  G         p.400

          .         .         .         .         .         .       g.15401
 GACAGTGGGGGGCCCATGGTCGCCTCCTTCCACGGCACCTGGTTCCTGGTGGGCCTGGTG       c.1260
 D  S  G  G  P  M  V  A  S  F  H  G  T  W  F  L  V  G  L  V         p.420

          .         .         .         .         .         .       g.15461
 AGCTGGGGTGAGGGCTGTGGGCTCCTTCACAACTACGGCGTTTACACCAAAGTCAGCCGC       c.1320
 S  W  G  E  G  C  G  L  L  H  N  Y  G  V  Y  T  K  V  S  R         p.440

          .         .         .         .         .         .       g.15521
 TACCTCGACTGGATCCATGGGCACATCAGAGACAAGGAAGCCCCCCAGAAGAGCTGGGCA       c.1380
 Y  L  D  W  I  H  G  H  I  R  D  K  E  A  P  Q  K  S  W  A         p.460

                                                                    g.15527
 CCTTAG                                                             c.1386
 P  X                                                               p.461

          .         .         .         .         .         .       g.15587
 cgaccctccctgcagggctgggcttttgcatggcaatggatgggacattaaagggacatg       c.*60

          .         .         .         .         .         .       g.15647
 taacaagcacaccggcctgctgttctgtccttccatccctcttttgggctcttctggagg       c.*120

          .         .         .         .         .         .       g.15707
 gaagtaacatttactgagcacctgttgtatgtcacatgccttatgaatagaatcttaact       c.*180

          .         .         .         .         .         .       g.15767
 cctagagcaactctgtggggtggggaggagcagatccaagttttgcggggtctaaagctg       c.*240

          .         .         .         .         .         .       g.15827
 tgtgtgttgagggggatactctgtttatgaaaaagaataaaaaacacaaccacgaagcca       c.*300

 

 (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 Protein C (inactivator of coagulation factors Va and VIIIa) 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.