dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1) - coding DNA reference sequence

(used for variant description)

(last modified March 20, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_003859.1 in the DPM1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008923.1, covering DPM1 transcript NM_003859.1.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGCCTCCTTGGAAGTCAGTCGTAGTCCTCGCAGGTCTCGGCGGGAGCTGGAAGTGCGC       c.60
 M  A  S  L  E  V  S  R  S  P  R  R  S  R  R  E  L  E  V  R         p.20

          .         .         .         .         .         .       g.120
 AGTCCACGACAGAACAAATATTCGGTGCTTTTACCTACCTACAACGAGCGCGAGAACCTG       c.120
 S  P  R  Q  N  K  Y  S  V  L  L  P  T  Y  N  E  R  E  N  L         p.40

          .         .         .         .  | 02      .         .    g.3257
 CCGCTCATCGTGTGGCTGCTGGTGAAAAGCTTCTCCGAGAG | TGGAATCAACTATGAAATT    c.180
 P  L  I  V  W  L  L  V  K  S  F  S  E  S  |  G  I  N  Y  E  I      p.60

          .         .         .         .         .         .       g.3317
 ATAATCATAGATGATGGAAGCCCAGATGGAACAAGGGATGTTGCTGAACAGTTGGAGAAG       c.240
 I  I  I  D  D  G  S  P  D  G  T  R  D  V  A  E  Q  L  E  K         p.80

          .         .  | 03      .         .         .      | 04  . g.12605
 ATCTATGGGTCAGACAGAATT | CTTCTAAGACCACGAGAGAAAAAGTTGGGACTAG | GAACT c.300
 I  Y  G  S  D  R  I   | L  L  R  P  R  E  K  K  L  G  L  G |   T   p.100

          .         .         .         .         .         .       g.12665
 GCATATATTCATGGAATGAAACATGCCACAGGAAACTACATCATTATTATGGATGCTGAT       c.360
 A  Y  I  H  G  M  K  H  A  T  G  N  Y  I  I  I  M  D  A  D         p.120

          .   | 05     .         .         | 06         .         . g.16419
 CTCTCACACCAT | CCAAAATTTATTCCTGAATTTATTAG | GAAGCAAAAGGAGGGTAATTTT c.420
 L  S  H  H   | P  K  F  I  P  E  F  I  R  |  K  Q  K  E  G  N  F   p.140

          .         .         .         .         .         .       g.16479
 GATATTGTCTCTGGAACTCGCTACAAAGGAAATGGAGGTGTATATGGCTGGGATTTGAAA       c.480
 D  I  V  S  G  T  R  Y  K  G  N  G  G  V  Y  G  W  D  L  K         p.160

          .     | 07   .         .         .         .         .    g.17636
 AGAAAAATAATCAG | CCGTGGGGCCAATTTTTTAACTCAGATCTTGCTGAGACCAGGAGCA    c.540
 R  K  I  I  S  |  R  G  A  N  F  L  T  Q  I  L  L  R  P  G  A      p.180

          .         .    | 08    .         .         .         .    g.22298
 TCTGATTTAACAGGAAGTTTCAG | ATTATACCGAAAAGAAGTTCTAGAGAAATTAATAGAA    c.600
 S  D  L  T  G  S  F  R  |  L  Y  R  K  E  V  L  E  K  L  I  E      p.200

          .         .         .         .         .         .       g.22358
 AAATGTGTTTCTAAAGGCTACGTCTTCCAGATGGAGATGATTGTTCGGGCAAGACAGTTG       c.660
 K  C  V  S  K  G  Y  V  F  Q  M  E  M  I  V  R  A  R  Q  L         p.220

          .         | 09         .         .         .         .    g.23329
 AATTATACTATTGGCGAG | GTTCCAATATCATTTGTGGATCGTGTTTATGGTGAATCCAAG    c.720
 N  Y  T  I  G  E   | V  P  I  S  F  V  D  R  V  Y  G  E  S  K      p.240

          .         .         .         .         .         .       g.23389
 TTGGGAGGAAATGAAATAGTATCTTTCTTGAAAGGATTATTGACTCTTTTTGCTACTACA       c.780
 L  G  G  N  E  I  V  S  F  L  K  G  L  L  T  L  F  A  T  T         p.260

                                                                    g.23392
 TAA                                                                c.783
 X                                                                  p.260

          .         .         .         .         .         .       g.23452
 aagaaagatactcatttatagttacgttcatttcaggttaaacatgaaagaagcctggtt       c.*60

          .         .         .         .         .         .       g.23512
 actgatttgtataaaatgtactcttaaagtataaaatataaggtaaggtaaatttcatgc       c.*120

          .         .         .         .         .         .       g.23572
 atctttttatgaagaccacctattttatatttcaaattaaataattttaaagttgctggc       c.*180

          .         .         .         .         .         .       g.23632
 ctaatgagcaatgttctcaattttcgttttcattttgctgtattgagacctataaataaa       c.*240

          .         .                                               g.23656
 tgtatatttttttttgcataaagt                                           c.*264

 (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 Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 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.