nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) - coding DNA reference sequence

(used for variant description)

(last modified February 25, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_022787.3 in the NMNAT1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032954.1, covering NMNAT1 transcript NM_022787.3.

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

 (upstream sequence)
                                         .         .                g.5024
                                     gagagtgcgaccgagatgttccac       c.-121

 .         .         .         .         .         .                g.5084
 tcgctggcgtccgggccgctggtgatctccggtagcactcgggccggcggacagtgaggg       c.-61

 .    | 02    .         .         .         .         .             g.33646
 cgcg | acaacaagggaggtgtcacagttttccatttagatcaacaacttcaagttcttacc    c.-1

          .         .         .         .         .         .       g.33706
 ATGGAAAATTCCGAGAAGACTGAAGTGGTTCTCCTTGCTTGTGGTTCATTCAATCCCATC       c.60
 M  E  N  S  E  K  T  E  V  V  L  L  A  C  G  S  F  N  P  I         p.20

          .         .         .         .         .      | 03  .    g.37169
 ACCAACATGCACCTCAGGTTGTTTGAGCTGGCCAAGGACTACATGAATGGAACAG | GAAGG    c.120
 T  N  M  H  L  R  L  F  E  L  A  K  D  Y  M  N  G  T  G |   R      p.40

          .         .         .         .         .         .       g.37229
 TACACAGTTGTCAAAGGCATCATCTCTCCTGTTGGTGATGCCTACAAGAAGAAAGGACTC       c.180
 Y  T  V  V  K  G  I  I  S  P  V  G  D  A  Y  K  K  K  G  L         p.60

          .         .         .         .         .         .       g.37289
 ATTCCTGCCTATCACCGGGTCATCATGGCAGAACTTGCTACCAAGAATTCTAAATGGGTG       c.240
 I  P  A  Y  H  R  V  I  M  A  E  L  A  T  K  N  S  K  W  V         p.80

          .         .         .         .         .          | 04    g.42604
 GAAGTTGATACATGGGAAAGTCTTCAGAAGGAGTGGAAAGAGACTCTGAAGGTGCTAAG | A    c.300
 E  V  D  T  W  E  S  L  Q  K  E  W  K  E  T  L  K  V  L  R  |      p.100

          .         .         .         .         .         .       g.42664
 CACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTA       c.360
 H  H  Q  E  K  L  E  A  S  D  C  D  H  Q  Q  N  S  P  T  L         p.120

          .         .         .         .         .         .       g.42724
 GAAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCC       c.420
 E  R  P  G  R  K  R  K  W  T  E  T  Q  D  S  S  Q  K  K  S         p.140

          .          | 05        .         .         .         .    g.43914
 CTAGAGCCAAAAACAAAAG | CTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTG    c.480
 L  E  P  K  T  K  A |   V  P  K  V  K  L  L  C  G  A  D  L  L      p.160

          .         .         .         .         .         .       g.43974
 GAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAAC       c.540
 E  S  F  A  V  P  N  L  W  K  S  E  D  I  T  Q  I  V  A  N         p.180

          .         .         .         .         .         .       g.44034
 TATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCG       c.600
 Y  G  L  I  C  V  T  R  A  G  N  D  A  Q  K  F  I  Y  E  S         p.200

          .         .         .         .         .         .       g.44094
 GATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGAC       c.660
 D  V  L  W  K  H  R  S  N  I  H  V  V  N  E  W  I  A  N  D         p.220

          .         .         .         .         .         .       g.44154
 ATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTA       c.720
 I  S  S  T  K  I  R  R  A  L  R  R  G  Q  S  I  R  Y  L  V         p.240

          .         .         .         .         .         .       g.44214
 CCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGAC       c.780
 P  D  L  V  Q  E  Y  I  E  K  H  N  L  Y  S  S  E  S  E  D         p.260

          .         .         .         .         .         .       g.44274
 AGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAG       c.840
 R  N  A  G  V  I  L  A  P  L  Q  R  N  T  A  E  A  K  T  X         p.279

          .         .         .         .         .         .       g.44334
 gaattctacagcatgatatttcagacttcccatttggggatctgaaacaatctgggagtt       c.*60

          .         .         .         .         .         .       g.44394
 aataactggggaaagaagttgtgatctgttgcctaaactaaagcttaaaagtttagtaaa       c.*120

          .         .         .         .         .         .       g.44454
 aatcgtctgggcacagtggctcacgcctgtaatcccagcactttgggaggctgaggcagg       c.*180

          .         .         .         .         .         .       g.44514
 tggatcacggggtcaagagatcgagaccatcctggccaatatggtgaaaccccatctcta       c.*240

          .         .         .         .         .         .       g.44574
 ctaaaaatacaaaaattagctgtgtgtggtggcacgtgcctgtagtcccagctacttggg       c.*300

          .         .         .         .         .         .       g.44634
 aggctgaggcaggagaatcacttgaccccaggtggtggaggttgcagtgagccaagattg       c.*360

          .         .         .         .         .         .       g.44694
 caccattgcactccagcctggcgacagagcaagactctgtctcaaaaaaaaaaaaaaatt       c.*420

          .         .         .         .         .         .       g.44754
 tagtaaaaatcaatggtaagctaaaataagtttttgtttgtttatttgtttttgagatgg       c.*480

          .         .         .         .         .         .       g.44814
 agtctctactaaaaatacaaaaaattagccaggcatggtgccgcataactataatcccag       c.*540

          .         .         .         .         .         .       g.44874
 ctacttgggaggctgaggcaggagaatcgcttgaacccgggaggcacaggttccagtgag       c.*600

          .         .         .         .         .         .       g.44934
 ccaaggttgtgccactgcactccagcctgggcaaaaaagcaaaactccatctcaaagaga       c.*660

          .         .         .         .         .         .       g.44994
 aaaaaaaaaaagaccgggtgtggtggctcacacctgtaatcccagcactttgggaggcct       c.*720

          .         .         .         .         .         .       g.45054
 aagtgggtggatcacgtgaggtcaagagttcaagaccagcctggccaatatggtgaaacc       c.*780

          .         .         .         .         .         .       g.45114
 ccatctctactaagaatacaaaaaattagctgagcatggtggtgggctcctgtagtccca       c.*840

          .         .         .         .         .         .       g.45174
 gctacttgggaggctgaggcaggagaatcgcttgaacctgggaggcagaggttgcagtaa       c.*900

          .         .         .         .         .         .       g.45234
 gccaagatcgtgccattgcactccagcctgggtgacagagcgagactccatctcaaaaaa       c.*960

          .         .         .         .         .         .       g.45294
 aaaaaaaagcctgacagctagcaggtttcaggatccatctgccaagttagtgaaaggctg       c.*1020

          .         .         .         .         .         .       g.45354
 gagcctcaaatcatacagatgagggtcattttctcctccttagcttcttggagtttaaga       c.*1080

          .         .         .         .         .         .       g.45414
 gttgaaggagtcctgaaaagtaatgatagagcaagatgaagctatcagaactgaatttgg       c.*1140

          .         .         .         .         .         .       g.45474
 acttcctctgggaaactacacctagttcatctgaagtgtcacgtaaactgcagaaagttt       c.*1200

          .         .         .         .         .         .       g.45534
 ccaatgctggaaacttctctcatactatcgtgccttcctactcagaagtgcctgtgccct       c.*1260

          .         .         .         .         .         .       g.45594
 gctcagctgtgactactgacctcaggacctcactggacaaggcatgtggggacccttgca       c.*1320

          .         .         .         .         .         .       g.45654
 ggagccctggtaagggtacaatgatcctattgttttttgtttttgagatggagtctcact       c.*1380

          .         .         .         .         .         .       g.45714
 ctgtctcccaggctggagtgcagtggtgcgatctccgctcactgcaacctccgcctcccg       c.*1440

          .         .         .         .         .         .       g.45774
 ggttcaagcaattctcctgcctcagcctgctgagtagctgggattacaggcacccactac       c.*1500

          .         .         .         .         .         .       g.45834
 catgtccggctaattttgtatttttagtagagatggggtttcgccatgttagacaggctg       c.*1560

          .         .         .         .         .         .       g.45894
 gtcttgaactcctgacctcaggtgatctgcccacctcggccttccaaagtgctgggatta       c.*1620

          .         .         .         .         .         .       g.45954
 caggcatgagccactgcacccagcctgatcctattgttgcactatttatggagcaacaac       c.*1680

          .         .         .         .         .         .       g.46014
 tttgtacaaagaacaagctttgtacagagaacaagcttggctttttctcccaacgccgag       c.*1740

          .         .         .         .         .         .       g.46074
 gatgctgttgatgctgccacgtaatagcataattttgggtgtcctcaaggacagaacttc       c.*1800

          .         .         .         .         .         .       g.46134
 cactttgaataatggaagttagaacaatgaatttcacaggggaataaatattaatgactg       c.*1860

          .         .         .         .         .         .       g.46194
 acgtgaagaaaatatgccattgtttattccctcctgcatcatttccataatttgcttttg       c.*1920

          .         .         .         .         .         .       g.46254
 tactgtcaatttagaggaaatgtgtgatgctggtgttttgtttggcctgtttgtttgatg       c.*1980

          .         .         .         .         .         .       g.46314
 ctgggggttttatgtgttgtaccctttaccccttacattgtgtaatttgaaagtggcaaa       c.*2040

          .         .         .         .         .         .       g.46374
 caaacctgcagtaaaagtccttgattggcatcttcattcggatgatggagagcctttgtg       c.*2100

          .         .         .         .         .         .       g.46434
 gtagtgtttgcttatgtgaacagcaggcctttcagataagagaagtggcttttccttggt       c.*2160

          .         .         .         .         .         .       g.46494
 gatgaaggggtagagattgagccatggggatggtttaggttaaagaatgcttttttttgg       c.*2220

          .         .         .         .         .         .       g.46554
 ccatcatgaggatctaacaacagagtagaaggaaggatgccctaggtcagcatgcagggt       c.*2280

          .         .         .         .         .         .       g.46614
 ggtgggagggctttcatcttccttacccaagcctctcttttcacttttctagaagtccag       c.*2340

          .         .         .         .         .         .       g.46674
 aagttgttatatgatgaaatagcctcctttaacgtttatttctgggtgccaacggaggcc       c.*2400

          .         .         .         .         .         .       g.46734
 cattcctctaacattctcataatttttctcaaaggcctatgatctaaacatttcaccacg       c.*2460

          .         .         .         .         .         .       g.46794
 gcatccactcagctgtgaggctgcgtacacagtctccacctctgaaatctgaacttcgtt       c.*2520

          .         .         .         .         .         .       g.46854
 taccagtggtgctgtttgaacttcataatgtcagcacttcctgaacacttactgtgtgct       c.*2580

          .         .         .         .         .         .       g.46914
 tggcttgtgctcctgagtgccttatatcataaggaaacggcaaaatcaggggactggtat       c.*2640

          .         .         .         .         .         .       g.46974
 aaatggtgagctgagcttgaatctaagctttgtcttcagagccagtacccctaatctctc       c.*2700

          .         .         .         .         .         .       g.47034
 tttctgtaaaatattacttttcaaagaatgaagttgtagccaaatcttgaaatttttcat       c.*2760

          .         .         .                                     g.47071
 ttaccctaagtgaggacaaataaagctttcaacaaca                              c.*2797

 (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 Nicotinamide nucleotide adenylyltransferase 1 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.