Isoprenoid synthase domain containing (ISPD) - coding DNA reference sequence

(used for mutation description)

(last modified May 7, 2012)


This file was created to facilitate the description of sequence variants in the ISPD gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032690.1, covering ISPD transcript variant-1 (NM_001101426.3). Transcript variant-2 (NM_001101417.3) skips exon 3.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGAGGCCGGGCCGCCGGGCAGCGCCAGGCCGGCGGAGCCGGGTCCTTGCCTGAGTGGT       c.60
 M  E  A  G  P  P  G  S  A  R  P  A  E  P  G  P  C  L  S  G         p.20

          .         .         .         .         .         .       g.120
 CAGCGCGGCGCGGACCACACGGCTTCCGCCTCCCTGCAGAGCGTGGCCGGGACCGAGCCC       c.120
 Q  R  G  A  D  H  T  A  S  A  S  L  Q  S  V  A  G  T  E  P         p.40

          .         .         .         .         .         .       g.180
 GGGCGCCACCCGCAAGCCGTGGCAGCTGTGTTGCCTGCCGGGGGGTGCGGGGAGAGGATG       c.180
 G  R  H  P  Q  A  V  A  A  V  L  P  A  G  G  C  G  E  R  M         p.60

          .         .         .         .         .         .       g.240
 GGGGTCCCCACCCCGAAGCAATTCTGCCCCATCCTGGAGAGGCCGCTCATCAGCTACACC       c.240
 G  V  P  T  P  K  Q  F  C  P  I  L  E  R  P  L  I  S  Y  T         p.80

          .        | 02.         .         .         .         .    g.15028
 CTACAGGCCCTGGAGAG | AGTATGTTGGATAAAGGACATTGTTGTGGCAGTAACTGGAGAG    c.300
 L  Q  A  L  E  R  |  V  C  W  I  K  D  I  V  V  A  V  T  G  E      p.100

          .         .         .         .         .         .       g.15088
 AACATGGAAGTAATGAAAAGTATTATTCAGAAGTATCAGCATAAACGCATCTCACTGGTC       c.360
 N  M  E  V  M  K  S  I  I  Q  K  Y  Q  H  K  R  I  S  L  V         p.120

          .         .         .         .         .         .       g.15148
 GAAGCTGGAGTGACCCGCCACAGGTCAATTTTCAATGGACTAAAAGCACTGGCAGAAGAT       c.420
 E  A  G  V  T  R  H  R  S  I  F  N  G  L  K  A  L  A  E  D         p.140

          .         .         .         .         .         .       g.15208
 CAGATCAACTCTAAACTCTCTAAGCCAGAAGTAGTGATTATCCATGATGCTGTGAGACCA       c.480
 Q  I  N  S  K  L  S  K  P  E  V  V  I  I  H  D  A  V  R  P         p.160

          .         .         .         .         .     | 03   .    g.45087
 TTTGTTGAGGAAGGTGTCCTTCTTAAAGTTGTCACAGCTGCTAAGGAACACGGG | GCAGCA    c.540
 F  V  E  E  G  V  L  L  K  V  V  T  A  A  K  E  H  G   | A  A      p.180
                                                        ^  alternatively spliced exon,
                                                           missing in some transcripts

          .         .         .         .         .         .       g.45147
 GGAGCCATTCGACCTCTTGTATCTACTGTCGTCAGTCCATCTGCTGATGGTTGCTTAGAC       c.600
 G  A  I  R  P  L  V  S  T  V  V  S  P  S  A  D  G  C  L  D         p.200

          .         .         .         .         .         .       g.45207
 TACTCGCTAGAACGTGCCAGACACAGAGCAAGTGAAATGCCCCAAGCTTTTCTATTTGAT       c.660
 Y  S  L  E  R  A  R  H  R  A  S  E  M  P  Q  A  F  L  F  D         p.220

          .         .     | 04   .         .         .         .    g.112731
 GTGATTTATGAAGCATATCAGCAG | TGTAGTGACTATGACTTGGAATTTGGAACTGAGTGT    c.720
 V  I  Y  E  A  Y  Q  Q   | C  S  D  Y  D  L  E  F  G  T  E  C      p.240

          .         .         .         .         .         .       g.112791
 TTGCAATTGGCCCTAAAATACTGTTGCACTAAAGCCAAACTTGTAGAAGGATCACCTGAC       c.780
 L  Q  L  A  L  K  Y  C  C  T  K  A  K  L  V  E  G  S  P  D         p.260

           | 05        .         .         .         .      | 06  . g.143101
 CTCTGGAAG | GTGACCTACAAACGAGATCTCTATGCGGCTGAATCGATTATTAAGG | AGAGA c.840
 L  W  K   | V  T  Y  K  R  D  L  Y  A  A  E  S  I  I  K  E |   R   p.280

          .         .         .         .         .         .       g.143161
 ATTTCCCAAGAGATTTGTGTAGTTATGGATACAGAAGAAGATAACAAACATGTAGGTCAT       c.900
 I  S  Q  E  I  C  V  V  M  D  T  E  E  D  N  K  H  V  G  H         p.300

          .         .         .    | 07    .         .         .    g.162337
 CTTCTTGAAGAAGTGCTGAAAAGTGAATTAAAT | CATGTAAAAGTCACATCTGAGGCTCTG    c.960
 L  L  E  E  V  L  K  S  E  L  N   | H  V  K  V  T  S  E  A  L      p.320

          .         .         .         .         .         .       g.162397
 GGTCATGCTGGCAGACATCTTCAGCAAATCATCTTAGATCAATGCTACAATTTTGTTTGT       c.1020
 G  H  A  G  R  H  L  Q  Q  I  I  L  D  Q  C  Y  N  F  V  C         p.340

        | 08 .         .         .         .         .         .    g.162894
 GTGAAT | GTTACAACCTCTGATTTTCAAGAAACCCAGAAGTTACTGAGCATGCTTGAAGAG    c.1080
 V  N   | V  T  T  S  D  F  Q  E  T  Q  K  L  L  S  M  L  E  E      p.360

          .         .         .          | 09        .         .    g.205146
 AGTAGTCTTTGCATTTTATATCCTGTTGTTGTTGTTTCA | GTTCATTTTCTTGATTTTAAA    c.1140
 S  S  L  C  I  L  Y  P  V  V  V  V  S   | V  H  F  L  D  F  K      p.380

          .         .         .         .         .         .       g.205206
 TTAGTACCTCCCAGTCAGAAAATGGAAAACCTAATGCAGATTAGAGAATTTGCAAAGGAA       c.1200
 L  V  P  P  S  Q  K  M  E  N  L  M  Q  I  R  E  F  A  K  E         p.400

          .         .         .         .         .  | 10      .    g.329532
 GTAAAAGAAAGAAATATTTTGTTATATGGGCTTCTCATATCTTACCCACAG | GATGATCAG    c.1260
 V  K  E  R  N  I  L  L  Y  G  L  L  I  S  Y  P  Q   | D  D  Q      p.420

          .         .         .         .         .         .       g.329592
 AAGCTACAGGAGAGTTTAAGGCAAGGTGCTATCATTATTGCTTCATTAATCAAGGAAAGA       c.1320
 K  L  Q  E  S  L  R  Q  G  A  I  I  I  A  S  L  I  K  E  R         p.440

          .         .         .                                     g.329628
 AATTCTGGACTCATTGGTCAGCTTCTGATAGCATGA                               c.1356
 N  S  G  L  I  G  Q  L  L  I  A  X                                 p.451

          .         .         .         .         .         .       g.329688
 agaacacaaaaaattacctattttctaaaacatctatttgcgtatcttaattgtgctttg       c.*60

          .         .         .         .         .         .       g.329748
 tgcccccgctgctgtgtgtggtagaatgtttcagttgtcttttatatcttctctataatt       c.*120

          .         .         .         .         .         .       g.329808
 tgtaggatgtgatgcttagattataaagcagattaatgtttatatctgtgaaataaagaa       c.*180

          .         .         .         .         .         .       g.329868
 tacttttgtgtatgacaaatattaattgcctgaaccagaaaaaaatagtagataagtgga       c.*240

          .         .         .         .         .         .       g.329928
 aaataatagccttcaaatgaatctttccacagagacatgaacggtcaaatagaaataatg       c.*300

          .         .         .         .         .         .       g.329988
 atggggtgagctattctttcaaggaatgagaatttagaaaacttcagttattatcctaac       c.*360

          .         .         .         .         .         .       g.330048
 tgttaattaataatttacactattatgaagctaatggataaacttcagaattattctcac       c.*420

          .         .         .         .         .         .       g.330108
 ttctataattgtcctgtcaccaggtgatattttgtctttttgtcttgtgttaaaaatgtc       c.*480

          .         .         .         .         .         .       g.330168
 tacactttaataaaaaagggtgagtgggataccagggaacggaactgtttgtttctagca       c.*540

          .         .         .         .         .         .       g.330228
 ttttccccatttgccacatattactcaagatccctaaaacagatgtcatttccttctttt       c.*600

          .         .         .         .         .         .       g.330288
 ctgtttttaaattgtatgttatttttggtttatgaactataattatgacttacattattt       c.*660

          .         .         .         .         .         .       g.330348
 taaagggtctctagtttttctgaatgaacttaaaagtgtctggaaagtttcgtaggtgat       c.*720

          .         .         .         .         .         .       g.330408
 tctggtcaatccctggttagttatcttctataaggtagagaatctattgtacatcataga       c.*780

          .         .         .         .         .         .       g.330468
 gttaaattagttatttcaattcagatactgctaccttttaaaatcaagttcttatttcca       c.*840

          .         .         .         .         .         .       g.330528
 gttttcattggtatatacatctgaaatattaatattttcccttgcatgttataattatgg       c.*900

          .         .         .         .         .         .       g.330588
 gtgtcctttaattcattagaggtgacttttaatctatacatacacttactctatttattt       c.*960

          .         .         .         .         .         .       g.330648
 tattttttattgttttgaaatgcagtcgccctctgtcaggctggagtgcagtggcacaat       c.*1020

          .         .         .         .         .         .       g.330708
 ctcagctgactgcaacctctgcctcctgggtttaagcaattatcctccctcagcctcccg       c.*1080

          .         .         .         .         .         .       g.330768
 agtagctgggattacaggcacctgccaccacacctggctaattttttttttttttttttt       c.*1140

          .         .         .         .         .         .       g.330828
 tttttgtatttttagtagagaagggttttcgccatgtaggccaggctggtcttgaactcc       c.*1200

          .         .         .         .         .         .       g.330888
 tgacctcaagtgatctgcctgcctcggcctcccaaaatgctgggattataggtgtgagcc       c.*1260

          .         .         .         .         .         .       g.330948
 accatacccagccaacatacatttattttattgaaacagattagggcttaggctgcacgt       c.*1320

          .         .         .         .         .         .       g.331008
 ggaaactataaaagttgcatgaagtgttttcagttaaagatacactatacaatatctacc       c.*1380

          .         .         .         .         .         .       g.331068
 ttgtggaatttttatttaacatgttgggtgattttccctctagtgttcaagtatatatat       c.*1440

          .         .         .         .         .         .       g.331128
 agtaggagagtttatattttacattctcctaattgaaatgtgttatttgaatgtaggctt       c.*1500

          .         .         .         .         .         .       g.331188
 gtatctaaattcctgggcctgccctttttctctctctaggaatattaagaaatttaaaat       c.*1560

          .         .         .         .         .         .       g.331248
 ccattaatttaagtttttgaggatggaaataggtaagcaatgtgtggattgtggttagga       c.*1620

          .         .         .         .         .         .       g.331308
 atgtctgtgcctttgttcagatgtcggctgtgtgtgtgacgaaaaccacagctgccaagt       c.*1680

          .         .         .         .         .         .       g.331368
 ccccaacatgcacctgttgaagtcatcaggtgaaaatgtttaagactttgaaagtgctca       c.*1740

          .         .         .         .         .         .       g.331428
 taaaggaagaaggggaaatgttatcaaggctttaaagagagggtaagtgccttgaagaag       c.*1800

          .         .         .         .         .         .       g.331488
 aatgcagtaaactgggcatatttgtggcacagcaaaatcaccctgatcgctggagtgctg       c.*1860

          .         .         .         .         .         .       g.331548
 gctgagttaacatagacttcagcttaaggaatcctacagcagacaagaatttatctcaga       c.*1920

          .         .         .         .         .         .       g.331608
 gtacttactatgacattaccctaggcaactggtaacatttagtataatttagttaataaa       c.*1980

          .         .         .         .         .         .       g.331668
 atattaagttgtgcctggaaaaaatagcatttggtccttcatagcaggcaaagcaattca       c.*2040

          .         .         .         .         .         .       g.331728
 cagcattgggaaaaaaaaatacatacatacatatacatgtatgtatacccatatatatgt       c.*2100

          .         .         .         .         .         .       g.331788
 atatacatgcatgtatacccatatatatgtatatacttacatgtatatacatatatatgt       c.*2160

          .         .         .         .         .         .       g.331848
 atgtacgtacatatatacccatatctatgtatgtacgtacatatatacccgtatatatgt       c.*2220

          .         .         .         .         .         .       g.331908
 acgtacatatatacacatatatgtatgcacgtacatatatacacatatatgtatgtacgt       c.*2280

          .         .         .         .         .         .       g.331968
 acatatatacacattatgtacatacatatatacgtatatatgtacatgcatgtatgtatg       c.*2340

          .         .         .         .         .         .       g.332028
 tatatacgtacgcatacacacatatatttatatacgtacgcatacacacatatatgtata       c.*2400

          .         .         .         .         .         .       g.332088
 tacgtacgcatacacacatatatgtatatacgtacgcatacacacatatatgtatatacg       c.*2460

          .         .         .         .         .         .       g.332148
 tacgcatacacacatatatgtatatacgtacgtatatacacacatatatgtatatacgta       c.*2520

          .         .         .         .         .         .       g.332208
 cgtatatatgtatttttatgttttatgtatatgtattttatatgtatatatatctgcaca       c.*2580

          .         .         .         .         .         .       g.332268
 tccttcactattttcatgaggaaattggagctcagggatcttagttaccttgccaaaatc       c.*2640

          .         .         .         .         .         .       g.332328
 atgtgactgaatagtaacaaaagtttgggcttaaaataaggaagactgataataagtgtt       c.*2700

          .         .         .         .         .         .       g.332388
 aagcttatattcctgtctaacaatgacccctggcaaagacatctgatatataagccacgt       c.*2760

          .         .         .         .         .         .       g.332448
 ctgatatataagacgtgatatataagccagaggcactgaatgaacattggcgaaatggac       c.*2820

          .         .         .         .         .         .       g.332508
 aagaagggtgggacacttatgtccagggactaggtgaaagtcctggagcttttggctttc       c.*2880

          .         .         .         .         .         .       g.332568
 cagccaccttcccagcataaagaaattgtagctaaagttaagggaatgaatagaagtatt       c.*2940

          .         .         .         .         .         .       g.332628
 ggccaaaagagaaattattttgttgtttaagagatctggccgggcgcgatggctcacgcc       c.*3000

          .         .         .         .         .         .       g.332688
 tgaaatcccagcactttgggaggccgaggcaggcagattacgaggtcaggagatccagac       c.*3060

          .         .         .         .         .         .       g.332748
 catcctggctaatgcggtgaaaccccgtctctagtaaaaatacaaaaaaaatagccaggc       c.*3120

          .         .         .         .         .         .       g.332808
 atcgtggcgggcgcctgtagtcccagctactcaggaggcttaggcaggagaatggcgtca       c.*3180

          .         .         .         .         .         .       g.332868
 acctgggaggcggagcttgcagtgagccgacatagcgccactgcactccagcctgggcaa       c.*3240

          .         .         .         .         .         .       g.332928
 cagagcaagactccgtctcaaaaaaaaaaaaaaaaaaaaaaagagagatccagaggtaac       c.*3300

          .         .         .         .         .         .       g.332988
 tttacagttacattttcatcactgcttctgtaaatttactttagtaaaagctgtctattc       c.*3360

          .         .         .         .         .         .       g.333048
 tcactttattttccaaaatctcttaaaaaataatagtgattatgcttcaaggtttctgaa       c.*3420

          .         .         .         .         .         .       g.333108
 aatgcttccacttgtgggaaattttgttgcaaaatggttttctttctaaacttacgctag       c.*3480

          .         .         .         .         .         .       g.333168
 ttagttaaatgcaaattaaagttagtcgtcttaggagttcatcatagcgtgagtaatggt       c.*3540

          .         .         .         .         .         .       g.333228
 ttgattaatgacattttggtagaggtcctattttttttcataaaagtgctcaatttgaga       c.*3600

          .         .         .         .         .         .       g.333288
 tgacttgttgcaagtatactcatttacaggtaagagtcagctccctatattctctcagag       c.*3660

          .         .         .         .         .         .       g.333348
 tcattgttatggttattattgtaagtattttacattaatttaacagaaattttttcttcc       c.*3720

          .         .         .         .         .         .       g.333408
 ctaacttataactcaactttatgtaaatacagtgatcatcttataaaaatcaaattacag       c.*3780

          .         .         .         .         .         .       g.333468
 aatgtcttaaaatctgtaaatttgactttgttttaatgttgaaactacaaattcacagag       c.*3840

          .         .         .         .         .         .       g.333528
 gcataaatctaacatcttaattaaaatgtcaaccatatgcaagaagaaagatagaagtta       c.*3900

          .         .         .         .         .         .       g.333588
 tttagaaagtttaatttgaaaacagaataatgaagcattttaattgatataggatttgtt       c.*3960

          .         .         .         .         .         .       g.333648
 agtatggcttaaaatcagtggactagaagtagctgtgtaggtggtggttggcattatagt       c.*4020

          .         .         .         .         .         .       g.333708
 tgcatttatatatgttcttattaatttcagtttcaaaattgtaagaagcatatgcatatt       c.*4080

          .         .         .         .         .         .       g.333768
 tttaaggtgacattgaaaagtactataaagattctaaatatgttgtttttacaaaacaaa       c.*4140

          .         .                                               g.333796
 atgtaaataaattattgatttaaaatct                                       c.*4168

 (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 10th nucleotide is indicated by a "." above the sequence. The Isoprenoid synthase domain containing protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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