death associated protein 3 (DAP3) - coding DNA reference sequence

(used for variant description)

(last modified January 6, 2025)

This file was created to facilitate the description of sequence variants on transcript NM_004632.3 in the DAP3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering DAP3 transcript NM_004632.3.

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

 (upstream sequence)
                                         .         .                g.5031
                                 gtctcaggacgggcgctttggagccggc       c.-61

 .         .         .         .         .         .   | 02         g.25689
 cccaggcagcgtgtgtcggtcgcctagtctggagaactagtcctcgactcacg | tgcaagg    c.-1

          .         .         .         .      | 03  .         .    g.32930
 ATGATGCTGAAAGGAATAACAAGGCTTATCTCTAGGATCCATAAG | TTGGACCCTGGGCGT    c.60
 M  M  L  K  G  I  T  R  L  I  S  R  I  H  K   | L  D  P  G  R      p.20

          .         .         .         .         .         .       g.32990
 TTTTTACACATGGGGACCCAGGCTCGCCAAAGCATTGCTGCTCACCTAGATAACCAGGTT       c.120
 F  L  H  M  G  T  Q  A  R  Q  S  I  A  A  H  L  D  N  Q  V         p.40

          .         .         .         .         | 04         .    g.37438
 CCAGTTGAGAGTCCGAGAGCTATTTCCCGCACCAATGAGAATGACCCG | GCCAAGCATGGG    c.180
 P  V  E  S  P  R  A  I  S  R  T  N  E  N  D  P   | A  K  H  G      p.60

          .         .         .         .         .         .       g.37498
 GATCAGCACGAGGGTCAGCACTACAACATCTCCCCCCAGGATTTGGAGACTGTATTTCCC       c.240
 D  Q  H  E  G  Q  H  Y  N  I  S  P  Q  D  L  E  T  V  F  P         p.80

          .         .         . | 05       .         .         .    g.41321
 CATGGCCTTCCTCCTCGCTTTGTGATGCAG | GTGAAGACATTCAGTGAAGCTTGCCTGATG    c.300
 H  G  L  P  P  R  F  V  M  Q   | V  K  T  F  S  E  A  C  L  M      p.100

          .         .         .         .         .         .       g.41381
 GTAAGGAAACCAGCCCTAGAACTTCTGCATTACCTGAAAAACACCAGTTTTGCTTATCCA       c.360
 V  R  K  P  A  L  E  L  L  H  Y  L  K  N  T  S  F  A  Y  P         p.120

          .          | 06        .         .         .         .    g.41877
 GCTATACGATATCTTCTGT | ATGGAGAGAAGGGAACAGGAAAAACCCTAAGTCTTTGCCAT    c.420
 A  I  R  Y  L  L  Y |   G  E  K  G  T  G  K  T  L  S  L  C  H      p.140

          .         .         .         .         .   | 07     .    g.43525
 GTTATTCATTTCTGTGCAAAACAGGACTGGCTGATACTACATATTCCAGATG | CTCATCTT    c.480
 V  I  H  F  C  A  K  Q  D  W  L  I  L  H  I  P  D  A |   H  L      p.160

          .         .         .         .         .         .       g.43585
 TGGGTGAAAAATTGTCGGGATCTTCTGCAGTCCAGCTACAACAAACAGCGCTTTGATCAA       c.540
 W  V  K  N  C  R  D  L  L  Q  S  S  Y  N  K  Q  R  F  D  Q         p.180

          .         .         .         .         .         .       g.43645
 CCTTTAGAGGCTTCAACCTGGCTGAAGAATTTCAAAACTACAAATGAGCGCTTCCTGAAC       c.600
 P  L  E  A  S  T  W  L  K  N  F  K  T  T  N  E  R  F  L  N         p.200

     | 08    .         .         .         .         .         .    g.45008
 CAG | ATAAAAGTTCAAGAGAAGTATGTCTGGAATAAGAGAGAAAGCACTGAGAAAGGGAGT    c.660
 Q   | I  K  V  Q  E  K  Y  V  W  N  K  R  E  S  T  E  K  G  S      p.220

          .         .     | 09   .         .         .         .    g.45153
 CCTCTGGGAGAAGTGGTTGAACAG | GGCATAACACGGGTGAGGAACGCCACAGATGCAGTT    c.720
 P  L  G  E  V  V  E  Q   | G  I  T  R  V  R  N  A  T  D  A  V      p.240

          .         .         .         .         .         .       g.45213
 GGAATTGTGCTGAAAGAGCTAAAGAGGCAAAGTTCTTTGGGTATGTTTCACCTCCTAGTG       c.780
 G  I  V  L  K  E  L  K  R  Q  S  S  L  G  M  F  H  L  L  V         p.260

          .         .         .         .         .         .       g.45273
 GCCGTGGATGGAATCAATGCTCTTTGGGGAAGAACCACTCTGAAAAGAGAAGATAAAAGC       c.840
 A  V  D  G  I  N  A  L  W  G  R  T  T  L  K  R  E  D  K  S         p.280

     | 10    .         .         .         .         .         .    g.47322
 CCG | ATTGCCCCCGAGGAATTAGCACTTGTTCACAACTTGAGGAAAATGATGAAAAATGAT    c.900
 P   | I  A  P  E  E  L  A  L  V  H  N  L  R  K  M  M  K  N  D      p.300

     | 11    .         .         .         .         .         .    g.47910
 TGG | CATGGAGGCGCCATTGTGTCGGCTTTGAGCCAGACTGGGTCTCTCTTTAAGCCCCGG    c.960
 W   | H  G  G  A  I  V  S  A  L  S  Q  T  G  S  L  F  K  P  R      p.320

          .         .         .    | 12    .         .         .    g.52882
 AAAGCCTATCTGCCCCAGGAGTTGCTGGGAAAG | GAAGGATTTGATGCCCTGGATCCCTTT    c.1020
 K  A  Y  L  P  Q  E  L  L  G  K   | E  G  F  D  A  L  D  P  F      p.340

          .         .         .         .         .         .       g.52942
 ATTCCCATCCTGGTTTCCAACTATAACCCAAAGGAATTTGAAAGTTGTATTCAGTATTAT       c.1080
 I  P  I  L  V  S  N  Y  N  P  K  E  F  E  S  C  I  Q  Y  Y         p.360

          .         .         .  | 13      .         .         .    g.54095
 TTGGAAAACAATTGGCTTCAACATGAGAAAG | CTCCTACAGAAGAAGGGAAAAAAGAGCTG    c.1140
 L  E  N  N  W  L  Q  H  E  K  A |   P  T  E  E  G  K  K  E  L      p.380

          .         .         .         .         .                 g.54152
 CTGTTCCTAAGTAACGCGAACCCCTCGCTGCTGGAGCGGCACTGTGCCTACCTCTAA          c.1197
 L  F  L  S  N  A  N  P  S  L  L  E  R  H  C  A  Y  L  X            p.398

          .         .         .         .         .         .       g.54212
 gccaagatcacagcatgtgaggaagacagtggacatctgctttatgctggacccagtaag       c.*60

          .         .         .         .         .         .       g.54272
 atgaggaagtcgggcagtacacaggaagaggagccaggcccttgtacctatgggattgga       c.*120

          .         .         .         .         .         .       g.54332
 caggactgcagttggctctggacctgcattaaaatgggtttcactgtgaatgcgtgacaa       c.*180

          .         .         .         .         .         .       g.54392
 taagatattcccttgttcctaaaactttatatcagtttattggatgtggtttttcacatt       c.*240

          .         .         .         .         .         .       g.54452
 taagataattatggctcttttcctaaaaaataaaatatctttctaaagtgttgtgttaga       c.*300

          .         .         .         .         .         .       g.54512
 ttaataatatggaaggagtctttagattggccaaattgcatttctctgatattcctcttg       c.*360

          .         .         .         .         .         .       g.54572
 ttgcaggtcagaagagatcaattctacagaaatttccagtggttctgttgaggctttatg       c.*420

          .         .         .         .         .         .       g.54632
 gaattcagcatgtcaaaattcacagctggctgggcacagtggctcatgcctgtaatccca       c.*480

          .         .         .         .         .         .       g.54692
 gcactttggaagcccaaggcgggcagactgcttgagttcaggagtttgcaaccagcctgg       c.*540

          .         .         .         .         .         .       g.54752
 gcaacatggtgaaaacctgtctctactaaaaatacaaaaattagccgggcacggtggcat       c.*600

          .         .         .         .         .         .       g.54812
 gcgcctgtaatccaagctacttgggaggctgaggcaggagaattgcttcaacttgggagg       c.*660

          .         .         .         .         .         .       g.54872
 cggatgttgcagtgagccaaaattgcaccactgcactccagcctgggcagcagagcaaga       c.*720

          .         .         .         .                           g.54920
 ctccgtctcaaaataaataaataaataaataaataaataaataataaa                   c.*768

 (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 Death associated protein 3 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.