angio-associated, migratory cell protein (AAMP) - coding DNA reference sequence

(used for variant description)

(last modified April 20, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_001087.3 in the AAMP gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033036.1, covering AAMP transcript NM_001087.3.

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

 (upstream sequence)
                                         .         .                g.5024
                                     aggggctcgagttccgcgtcgtcg       c.-61

 .         .         .         .         .         .                g.5084
 cgcagagctgactctgggaggcgtttgggcccagagaagtggatccgccgcttgcgccgc       c.-1

          .         .         .         .         .         .       g.5144
 ATGGAGTCCGAATCGGAAAGCGGGGCTGCTGCTGACACCCCCCCACTGGAGACCCTAAGC       c.60
 M  E  S  E  S  E  S  G  A  A  A  D  T  P  P  L  E  T  L  S         p.20

          .         .         .         .         .         .       g.5204
 TTCCATGGTGATGAAGAGATTATCGAGGTGGTAGAACTTGATCCCGGTCCGCCGGACCCA       c.120
 F  H  G  D  E  E  I  I  E  V  V  E  L  D  P  G  P  P  D  P         p.40

   | 02      .         .         .         .         .         .    g.5695
 G | ATGACCTGGCCCAGGAGATGGAAGATGTGGACTTTGAGGAAGAAGAGGAGGAAGAGGGC    c.180
 D |   D  L  A  Q  E  M  E  D  V  D  F  E  E  E  E  E  E  E  G      p.60

          .         .         .         .         .         .       g.5755
 AACGAAGAGGGCTGGGTTCTAGAACCCCAGGAAGGGGTGGTCGGCAGCATGGAGGGCCCC       c.240
 N  E  E  G  W  V  L  E  P  Q  E  G  V  V  G  S  M  E  G  P         p.80

          .         .         .     | 03   .         .         .    g.7583
 GACGATAGCGAGGTCACCTTTGCATTGCACTCAG | CATCTGTGTTTTGTGTGAGCCTGGAC    c.300
 D  D  S  E  V  T  F  A  L  H  S  A |   S  V  F  C  V  S  L  D      p.100

          .         .         .         .         .         .       g.7643
 CCCAAGACCAATACCTTGGCAGTGACCGGGGGTGAAGATGACAAAGCCTTCGTATGGCGG       c.360
 P  K  T  N  T  L  A  V  T  G  G  E  D  D  K  A  F  V  W  R         p.120

          .         .         .     | 04   .         .         .    g.8210
 CTCAGCGATGGGGAGCTGCTCTTTGAGTGTGCAG | GCCATAAAGACTCTGTGACTTGTGCT    c.420
 L  S  D  G  E  L  L  F  E  C  A  G |   H  K  D  S  V  T  C  A      p.140

          .         .         .         .         .         .       g.8270
 GGTTTCAGCCATGACTCCACTCTAGTGGCCACAGGGGACATGAGTGGCCTCTTGAAAGTG       c.480
 G  F  S  H  D  S  T  L  V  A  T  G  D  M  S  G  L  L  K  V         p.160

          .         .         .         .         .     | 05   .    g.8589
 TGGCAGGTGGACACTAAGGAGGAGGTCTGGTCCTTTGAAGCGGGAGACCTGGAG | TGGATG    c.540
 W  Q  V  D  T  K  E  E  V  W  S  F  E  A  G  D  L  E   | W  M      p.180

          .         .         .         .         .         .       g.8649
 GAGTGGCATCCTCGGGCACCTGTCCTGTTGGCGGGCACAGCTGACGGCAACACCTGGATG       c.600
 E  W  H  P  R  A  P  V  L  L  A  G  T  A  D  G  N  T  W  M         p.200

          .         .         .         .         .         .       g.8709
 TGGAAAGTCCCGAATGGTGACTGCAAGACCTTCCAGGGTCCCAACTGCCCAGCCACCTGT       c.660
 W  K  V  P  N  G  D  C  K  T  F  Q  G  P  N  C  P  A  T  C         p.220

          .          | 06        .         .         .         .    g.9064
 GGCCGAGTCCTCCCTGATG | GGAAGAGAGCTGTGGTAGGCTATGAAGATGGGACCATCAGG    c.720
 G  R  V  L  P  D  G |   K  R  A  V  V  G  Y  E  D  G  T  I  R      p.240

          .         .         .         .    | 07    .         .    g.9241
 ATTTGGGACCTGAAGCAGGGAAGCCCTATCCATGTACTGAAAG | GGACTGAGGGTCACCAG    c.780
 I  W  D  L  K  Q  G  S  P  I  H  V  L  K  G |   T  E  G  H  Q      p.260

          .         .         .         .         .         .       g.9301
 GGCCCACTCACCTGTGTTGCTGCCAACCAGGATGGCAGCTTGATCCTAACTGGCTCTGTG       c.840
 G  P  L  T  C  V  A  A  N  Q  D  G  S  L  I  L  T  G  S  V         p.280

          .         .         .          | 08        .         .    g.9509
 GACTGCCAGGCCAAGCTGGTCAGTGCCACCACCGGCAAG | GTGGTGGGTGTTTTTAGACCT    c.900
 D  C  Q  A  K  L  V  S  A  T  T  G  K   | V  V  G  V  F  R  P      p.300

          .         .         .         .         .         .       g.9569
 GAGACTGTGGCCTCCCAGCCCAGCCTGGGAGAAGGGGAGGAGAGTGAGTCCAACTCGGTG       c.960
 E  T  V  A  S  Q  P  S  L  G  E  G  E  E  S  E  S  N  S  V         p.320

          .         .    | 09    .         .         .         .    g.9746
 GAGTCCTTGGGCTTCTGCAGTGT | GATGCCCCTGGCAGCTGTTGGCTACCTGGATGGGACC    c.1020
 E  S  L  G  F  C  S  V  |  M  P  L  A  A  V  G  Y  L  D  G  T      p.340

          .         .         .         .         .     | 10   .    g.10002
 TTGGCCATCTATGACCTGGCTACGCAGACTCTTAGGCATCAGTGTCAGCACCAG | TCGGGC    c.1080
 L  A  I  Y  D  L  A  T  Q  T  L  R  H  Q  C  Q  H  Q   | S  G      p.360

          .         .         .         .         .         .       g.10062
 ATCGTGCAGCTGCTGTGGGAGGCAGGCACTGCCGTGGTATATACCTGCAGCCTGGATGGC       c.1140
 I  V  Q  L  L  W  E  A  G  T  A  V  V  Y  T  C  S  L  D  G         p.380

          .         .         .         .         .         .       g.10122
 ATCGTGCGCCTCTGGGACGCCCGGACCGGCCGCCTGCTTACTGACTACCGGGGCCACACG       c.1200
 I  V  R  L  W  D  A  R  T  G  R  L  L  T  D  Y  R  G  H  T         p.400

          .         .          | 11        .         .         .    g.10593
 GCTGAGATCCTGGACTTTGCCCTCAGCAA | AGATGCCTCCCTGGTGGTGACCACGTCAGGA    c.1260
 A  E  I  L  D  F  A  L  S  K  |  D  A  S  L  V  V  T  T  S  G      p.420

          .         .         .         .                           g.10638
 GACCACAAAGCGAAAGTATTTTGTGTCCAAAGGCCTGACCGTTAA                      c.1305
 D  H  K  A  K  V  F  C  V  Q  R  P  D  R  X                        p.434

          .         .         .         .         .         .       g.10698
 tggctgcagcccctgcctgtgtgtctggtgttgaggggacgaagggacccctgcccctgt       c.*60

          .         .         .         .         .         .       g.10758
 ctgccagcagaggcagtagggcacagagggaagaggagggtggggccctggatgactttc       c.*120

          .         .         .         .         .         .       g.10818
 cagcctcttcaactgacttgctcccctctccttttcttctctttagagacccagcccagg       c.*180

          .         .         .         .         .         .       g.10878
 gccctcccacccttgtccagacctggtgggcccttcagagggaggggtggacctgtttct       c.*240

          .         .         .         .         .         .       g.10938
 ctttcactttcatttgctggtgtgagccatggggtgtgtatttgtatgtggggagtaggt       c.*300

          .         .         .         .         .         .       g.10998
 gtttgaggttcccgttctttcccttcccaagtctctgggggtggaaaggaggaagagata       c.*360

          .         .         .         .                           g.11042
 ctagttaaagattttaaaaatgtaaataaaatatacttcccaga                       c.*404

 (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 Angio-associated, migratory cell protein 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.