renin (REN) - coding DNA reference sequence

(used for variant description)

(last modified October 20, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_000537.3 in the REN gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012122.1, covering REN transcript NM_000537.3.

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

 (upstream sequence)
                     .         .         .         .                g.5044
                 agaacctcagtggatctcagagagagccccagactgagggaagc       c.-1

          .         .         .         .         .         .       g.5104
 ATGGATGGATGGAGAAGGATGCCTCGCTGGGGACTGCTGCTGCTGCTCTGGGGCTCCTGT       c.60
 M  D  G  W  R  R  M  P  R  W  G  L  L  L  L  L  W  G  S  C         p.20

          .         .         .         | 02         .         .    g.9196
 ACCTTTGGTCTCCCGACAGACACCACCACCTTTAAACG | GATCTTCCTCAAGAGAATGCCC    c.120
 T  F  G  L  P  T  D  T  T  T  F  K  R  |  I  F  L  K  R  M  P      p.40

          .         .         .         .         .         .       g.9256
 TCAATCCGAGAAAGCCTGAAGGAACGAGGTGTGGACATGGCCAGGCTTGGTCCCGAGTGG       c.180
 S  I  R  E  S  L  K  E  R  G  V  D  M  A  R  L  G  P  E  W         p.60

          .         .         .         .         .         .       g.9316
 AGCCAACCCATGAAGAGGCTGACACTTGGCAACACCACCTCCTCCGTGATCCTCACCAAC       c.240
 S  Q  P  M  K  R  L  T  L  G  N  T  T  S  S  V  I  L  T  N         p.80

           | 03        .         .         .         .         .    g.9973
 TACATGGAC | ACCCAGTACTATGGCGAGATTGGCATCGGCACCCCACCCCAGACCTTCAAA    c.300
 Y  M  D   | T  Q  Y  Y  G  E  I  G  I  G  T  P  P  Q  T  F  K      p.100

          .         .         .         .         .         .       g.10033
 GTCGTCTTTGACACTGGTTCGTCCAATGTTTGGGTGCCCTCCTCCAAGTGCAGCCGTCTC       c.360
 V  V  F  D  T  G  S  S  N  V  W  V  P  S  S  K  C  S  R  L         p.120

          .    | 04    .         .         .         .         .    g.10706
 TACACTGCCTGTG | TGTATCACAAGCTCTTCGATGCTTCGGATTCCTCCAGCTACAAGCAC    c.420
 Y  T  A  C  V |   Y  H  K  L  F  D  A  S  D  S  S  S  Y  K  H      p.140

          .         .         .         .         .         .       g.10766
 AATGGAACAGAACTCACCCTCCGCTATTCAACAGGGACAGTCAGTGGCTTTCTCAGCCAG       c.480
 N  G  T  E  L  T  L  R  Y  S  T  G  T  V  S  G  F  L  S  Q         p.160

          .   | 05     .         .         .         .         .    g.11790
 GACATCATCACC | GTGGGTGGAATCACGGTGACACAGATGTTTGGAGAGGTCACGGAGATG    c.540
 D  I  I  T   | V  G  G  I  T  V  T  Q  M  F  G  E  V  T  E  M      p.180

          .         .         .         .         .         .       g.11850
 CCCGCCTTACCCTTCATGCTGGCCGAGTTTGATGGGGTTGTGGGCATGGGCTTCATTGAA       c.600
 P  A  L  P  F  M  L  A  E  F  D  G  V  V  G  M  G  F  I  E         p.200

          .         .         .         .         .         .       g.11910
 CAGGCCATTGGCAGGGTCACCCCTATCTTCGACAACATCATCTCCCAAGGGGTGCTAAAA       c.660
 Q  A  I  G  R  V  T  P  I  F  D  N  I  I  S  Q  G  V  L  K         p.220

          .         .          | 06        | 07         .         . g.14563
 GAGGACGTCTTCTCTTTCTACTACAACAG | AGATTCCGA | GAATTCCCAATCGCTGGGAGGA c.720
 E  D  V  F  S  F  Y  Y  N  R  |  D  S  E  |  N  S  Q  S  L  G  G   p.240

          .         .         .         .         .         .       g.14623
 CAGATTGTGCTGGGAGGCAGCGACCCCCAGCATTACGAAGGGAATTTCCACTATATCAAC       c.780
 Q  I  V  L  G  G  S  D  P  Q  H  Y  E  G  N  F  H  Y  I  N         p.260

          .         .         .         | 08         .         .    g.15040
 CTCATCAAGACTGGTGTCTGGCAGATTCAAATGAAGGG | GGTGTCTGTGGGGTCATCCACC    c.840
 L  I  K  T  G  V  W  Q  I  Q  M  K  G  |  V  S  V  G  S  S  T      p.280

          .         .         .         .         .         .       g.15100
 TTGCTCTGTGAAGACGGCTGCCTGGCATTGGTAGACACCGGTGCATCCTACATCTCAGGT       c.900
 L  L  C  E  D  G  C  L  A  L  V  D  T  G  A  S  Y  I  S  G         p.300

          .         .         .         .         .         .       g.15160
 TCTACCAGCTCCATAGAGAAGCTCATGGAGGCCTTGGGAGCCAAGAAGAGGCTGTTTGAT       c.960
 S  T  S  S  I  E  K  L  M  E  A  L  G  A  K  K  R  L  F  D         p.320

  | 09       .         .         .         .         .         .    g.15479
  | TATGTCGTGAAGTGTAACGAGGGCCCTACACTCCCCGACATCTCTTTCCACCTGGGAGGC    c.1020
  | Y  V  V  K  C  N  E  G  P  T  L  P  D  I  S  F  H  L  G  G      p.340

          .         .         .          | 10        .         .    g.16181
 AAAGAATACACGCTCACCAGCGCGGACTATGTATTTCAG | GAATCCTACAGTAGTAAAAAG    c.1080
 K  E  Y  T  L  T  S  A  D  Y  V  F  Q   | E  S  Y  S  S  K  K      p.360

          .         .         .         .         .         .       g.16241
 CTGTGCACACTGGCCATCCACGCCATGGATATCCCGCCACCCACTGGACCCACCTGGGCC       c.1140
 L  C  T  L  A  I  H  A  M  D  I  P  P  P  T  G  P  T  W  A         p.380

          .         .         .         .         .         .       g.16301
 CTGGGGGCCACCTTCATCCGAAAGTTCTACACAGAGTTTGATCGGCGTAACAACCGCATT       c.1200
 L  G  A  T  F  I  R  K  F  Y  T  E  F  D  R  R  N  N  R  I         p.400

          .         .                                               g.16322
 GGCTTCGCCTTGGCCCGCTGA                                              c.1221
 G  F  A  L  A  R  X                                                p.406

          .         .         .         .         .         .       g.16382
 ggccctctgccacccaggcaggccctgccttcagccctggcccagagctggaacactctc       c.*60

          .         .         .         .         .         .       g.16442
 tgagatgcccctctgcctgggcttatgccctcagatggagacattggatgtggagctcct       c.*120

          .         .         .         .         .         .       g.16502
 gctggatgcgtgccctgacccctgcaccagcccttccctgctttgaggacaaagagaata       c.*180

          .         .                                               g.16522
 aagacttcatgttcacagcc                                               c.*200

 (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 Renin 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.