CD59 molecule, complement regulatory protein (CD59) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the CD59 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CD59 transcript NM_203330.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.6056
                        ggggccggggggcggagccttgcgggctggagcgaaa       c.-241

 .         .         .         .         .         .                g.6116
 gaatgcgggggctgagcgcagaagcggctcgaggctggaagaggatcttgggcgccgcca       c.-181

 . | 02       .         .         .         .         .             g.8947
 g | tctctctctgttgcccaagctggagtgcagtggcacagtcttggctcactgcaacctcc    c.-121

 .         .         .         .         .         .       | 03     g.11033
 acctcctgggtgcaagcgattctcgtgtctcagcctctcaagtagctgggattacag | tct    c.-61

 .         .         .         .         .  | 04      .             g.20053
 ttagcaccagttggtgtaggagttgagacctacttcacagta | gttctgtggacaatcaca    c.-1

          .         .         .         .         .         .       g.20113
 ATGGGAATCCAAGGAGGGTCTGTCCTGTTCGGGCTGCTGCTCGTCCTGGCTGTCTTCTGC       c.60
 M  G  I  Q  G  G  S  V  L  F  G  L  L  L  V  L  A  V  F  C         p.20

         | 05.         .         .         .         .         .    g.25080
 CATTCAG | GTCATAGCCTGCAGTGCTACAACTGTCCTAACCCAACTGCTGACTGCAAAACA    c.120
 H  S  G |   H  S  L  Q  C  Y  N  C  P  N  P  T  A  D  C  K  T      p.40

          .         .         .         .          | 06        .    g.32166
 GCCGTCAATTGTTCATCTGATTTTGATGCGTGTCTCATTACCAAAGCTG | GGTTACAAGTG    c.180
 A  V  N  C  S  S  D  F  D  A  C  L  I  T  K  A  G |   L  Q  V      p.60

          .         .         .         .         .         .       g.32226
 TATAACAAGTGTTGGAAGTTTGAGCATTGCAATTTCAACGACGTCACAACCCGCTTGAGG       c.240
 Y  N  K  C  W  K  F  E  H  C  N  F  N  D  V  T  T  R  L  R         p.80

          .         .         .         .         .         .       g.32286
 GAAAATGAGCTAACGTACTACTGCTGCAAGAAGGACCTGTGTAACTTTAACGAACAGCTT       c.300
 E  N  E  L  T  Y  Y  C  C  K  K  D  L  C  N  F  N  E  Q  L         p.100

          .         .         .         .         .         .       g.32346
 GAAAATGGTGGGACATCCTTATCAGAGAAAACAGTTCTTCTGCTGGTGACTCCATTTCTG       c.360
 E  N  G  G  T  S  L  S  E  K  T  V  L  L  L  V  T  P  F  L         p.120

          .         .                                               g.32373
 GCAGCAGCCTGGAGCCTTCATCCCTAA                                        c.387
 A  A  A  W  S  L  H  P  X                                          p.128

          .         .         .         .         .         .       g.32433
 gtcaacaccaggagagcttctcccaaactccccgttcctgcgtagtccgctttctcttgc       c.*60

          .         .         .         .         .         .       g.32493
 tgccacattctaaaggcttgatattttccaaatggatcctgttgggaaagaataaaatta       c.*120

          .         .         .         .         .         .       g.32553
 gcttgagcaacctggctaagatagaggggctctgggagactttgaagaccagtcctgttt       c.*180

          .         .         .         .         .         .       g.32613
 gcagggaagccccacttgaaggaagaagtctaagagtgaagtaggtgtgacttgaactag       c.*240

          .         .         .         .         .         .       g.32673
 attgcatgcttcctcctttgctcttgggaagaccagctttgcagtgacagcttgagtggg       c.*300

          .         .         .         .         .         .       g.32733
 ttctctgcagccctcagattatttttcctctggctccttggatgtagtcagttagcatca       c.*360

          .         .         .         .         .         .       g.32793
 ttagtacatctttggagggtggggcaggagtatatgagcatcctctctcacatggaacgc       c.*420

          .         .         .         .         .         .       g.32853
 tttcataaacttcagggatcccgtgttgccatggaggcatgccaaatgttccatatgtgg       c.*480

          .         .         .         .         .         .       g.32913
 gtgtcagtcagggacaacaagatccttaatgcagagctagaggacttctggcagggaagt       c.*540

          .         .         .         .         .         .       g.32973
 ggggaagtgttccagatagcagggcatgaaaacttagagaggtacaagtggctgaaaatc       c.*600

          .         .         .         .         .         .       g.33033
 gagtttttcctctgtctttaaattttatatgggctttgttatcttccactggaaaagtgt       c.*660

          .         .         .         .         .         .       g.33093
 aatagcatacatcaatggtgtgttaaagctatttccttgccttttttttattggaatggt       c.*720

          .         .         .         .         .         .       g.33153
 aggatatcttggctttgccacacacagttacagagtgaacactctactacatgtgactgg       c.*780

          .         .         .         .         .         .       g.33213
 cagtattaagtgtgcttattttaaatgttactggtagaaaggcagttcaggtatgtgtgt       c.*840

          .         .         .         .         .         .       g.33273
 atatagtatgaatgcagtggggacaccctttgtggttacagtttgagacttccaaaggtc       c.*900

          .         .         .         .         .         .       g.33333
 atccttaataacaacagatctgcaggggtatgttttaccatctgcatccagcctcctgct       c.*960

          .         .         .         .         .         .       g.33393
 aactcctagctgactcagcatagattgtataaaatacctttgtaacggctcttagcacac       c.*1020

          .         .         .         .         .         .       g.33453
 tcacagatgtttgaggctttcagaagctcttctaaaaaatgatacacacctttcacaagg       c.*1080

          .         .         .         .         .         .       g.33513
 gcaaactttttccttttccctgtgtattctagtgaatgaatctcaagattcagtagacct       c.*1140

          .         .         .         .         .         .       g.33573
 aatgacatttgtattttatgatcttggctgtatttaatggcataggctgacttttgcaga       c.*1200

          .         .         .         .         .         .       g.33633
 tggaggaatttcttgattaatgttgaaaaaaaacccttgattatactctgttggacaaac       c.*1260

          .         .         .         .         .         .       g.33693
 cgagtgcaatgaatgatgcttttctgaaaatgaaatataacaagtgggtgaatgtggtta       c.*1320

          .         .         .         .         .         .       g.33753
 tggccgaaaaggatatgcagtatgcttaatggtagcaactgaaagaagacatcctgagca       c.*1380

          .         .         .         .         .         .       g.33813
 gtgccagctttcttctgttgatgccgttccctgaacataggaaaatagaaacttgcttat       c.*1440

          .         .         .         .         .         .       g.33873
 caaaacttagcattaccttggtgctctgtgttctctgttagctcagtgtctttccttaca       c.*1500

          .         .         .         .         .         .       g.33933
 tcaataggtttttttttttttttttggcctgaggaagtactgaccatgcccacagccacc       c.*1560

          .         .         .         .         .         .       g.33993
 ggctgagcaaagaagctcatttcatgtgagttctaaggaatgagaaacaattttgatgaa       c.*1620

          .         .         .         .         .         .       g.34053
 tttaagcagaaaatgaatttctgggaacttttttgggggcgggggggtggggaattcagc       c.*1680

          .         .         .         .         .         .       g.34113
 cacactccagaaagccaggagtcgacagttttggaagcctctctcaggattgagattcta       c.*1740

          .         .         .         .         .         .       g.34173
 ggatgagattggcttactgctatcttgtgtcatgtacccactttttggccagactacact       c.*1800

          .         .         .         .         .         .       g.34233
 gggaagaaggtagtcctctaaagcaaaatctgagtgccactaaatggggagatggggctg       c.*1860

          .         .         .         .         .         .       g.34293
 ttaagctgtccaaatcaacaagggtcatataaatggccttaaactttggggttgctttct       c.*1920

          .         .         .         .         .         .       g.34353
 gcaaaaagttgctgtgactcatgccatagacaaggttgagtgcctggacccaaaggcaat       c.*1980

          .         .         .         .         .         .       g.34413
 actgtaatgtaaagacatttatagtactaggcaaacagcaccccaggtactccaggccct       c.*2040

          .         .         .         .         .         .       g.34473
 cctggctggagagggctgtggcaatagaaaattagtgccaactgcagtgagtcagcctag       c.*2100

          .         .         .         .         .         .       g.34533
 gttaaatagagagtgtaagagtgctggacaggaacctccaccctcatgtcacatttcttc       c.*2160

          .         .         .         .         .         .       g.34593
 aatgtgacccttctggcccctctcctcctgacagcggaacaatgactgccccgataggtg       c.*2220

          .         .         .         .         .         .       g.34653
 aggctggaggaagaatcagtcctgtccttggcaagctcttcactatgacagtaaaggctc       c.*2280

          .         .         .         .         .         .       g.34713
 tctgcctgctgccaaggcctgtgactttctaacctggcctcacgctgggtaagcttaagg       c.*2340

          .         .         .         .         .         .       g.34773
 tagaggtgcaggattagcaagcccacctggctaccaggccgacagctacatcctccaact       c.*2400

          .         .         .         .         .         .       g.34833
 gaccctgatcaacgaagagggattcatgtgtctgtctcagttggttccaaatgaaaccag       c.*2460

          .         .         .         .         .         .       g.34893
 ggagcaggggagttaggaatcgaacaccagtcatgcctactggctctctgctcgagagcc       c.*2520

          .         .         .         .         .         .       g.34953
 aataccctgtgccctccactcatctggatttacaggaactgtcatagtgttcagtattgg       c.*2580

          .         .         .         .         .         .       g.35013
 gtggtgataagcccattggattgtccccttggggggatgagctaggggtgcaaggaacac       c.*2640

          .         .         .         .         .         .       g.35073
 ctgatgagtagataagtggagctcatggtatttcctgaaagatgctaatctatttgccaa       c.*2700

          .         .         .         .         .         .       g.35133
 acttggtcttgaatgtactgggggcttcaaggtatgggtatatttttcttgtgtccttgc       c.*2760

          .         .         .         .         .         .       g.35193
 agttagcccccatgtcttatgtgtgtcctgaaaaaataagagcctgcccaagactttggg       c.*2820

          .         .         .         .         .         .       g.35253
 cctcttgacagaattaaccacttttatacatctgagttctcttggtaagttctttagcag       c.*2880

          .         .         .         .         .         .       g.35313
 tgttcaaagtctactagctcgcattagtttctgttgctgccaacagatctgaactaatgc       c.*2940

          .         .         .         .         .         .       g.35373
 taacagatccccctgagggattcttgatgggctgagcagctggctggagctagtactgac       c.*3000

          .         .         .         .         .         .       g.35433
 tgacattcattgtgatgagggcagctttctggtacaggattctaagctctatgttttata       c.*3060

          .         .         .         .         .         .       g.35493
 tacattttcatctgtacttgcacctcactttacacaagaggaaactatgcaaagttagct       c.*3120

          .         .         .         .         .         .       g.35553
 ggatcgctcaaggtcacttaggtaagttggcaagtccatgcttcccactcagctcctcag       c.*3180

          .         .         .         .         .         .       g.35613
 gtcagcaagtctacttctctgcctattttgtatactctctttaatatgtgcctagctttg       c.*3240

          .         .         .         .         .         .       g.35673
 gaaagtctagaatgggtccctggtgcctttttactttgaagaaatcagtttctgcctctt       c.*3300

          .         .         .         .         .         .       g.35733
 tttggaaaagaaaacaaagtgcaattgttttttactggaaagttacccaatagcatgagg       c.*3360

          .         .         .         .         .         .       g.35793
 tgaacaggacgtagttaggccttcctgtaaacagaaaatcatatcaaaacactatcttcc       c.*3420

          .         .         .         .         .         .       g.35853
 catctgtttctcaatgcctgctacttcttgtagatatttcatttcaggagagcagcagtt       c.*3480

          .         .         .         .         .         .       g.35913
 aaacccgtggattttgtagttaggaacctgggttcaaaccctcttccactaattggctat       c.*3540

          .         .         .         .         .         .       g.35973
 gtctctggacaagtttttttttttttttttttttaaaccctttctgaactttcactttct       c.*3600

          .         .         .         .         .         .       g.36033
 atgtctacctcaaagaattgttgtgaggcttgagataatgcatttgtaaagggtctgcca       c.*3660

          .         .         .         .         .         .       g.36093
 gataggaagatgctagttatggatttacaaggttgttaaggctgtaagagtctaaaacct       c.*3720

          .         .         .         .         .         .       g.36153
 acagtgaatcacaatgcatttacccccactgacttggacataagtgaaaactagccagaa       c.*3780

          .         .         .         .         .         .       g.36213
 gtctctttttcaaattacttacaggttattcaatataaaatttttgtaatggataatctt       c.*3840

          .         .         .         .         .         .       g.36273
 atttatctaaactaaagcttcctgtttatacacactcctgttattctgggataagataaa       c.*3900

          .         .         .         .         .         .       g.36333
 tgaccacagtaccttaatttctaggtgggtgcctgtgatggttcattgtaggtaaggaca       c.*3960

          .         .         .         .         .         .       g.36393
 ttttctctttttcagcagctgtgtaggtccagagcctctgggagaggaggggggtagcat       c.*4020

          .         .         .         .         .         .       g.36453
 gcacccagcaggggactgaactgggaaactcaaggttctttttactgtggggtagtgagc       c.*4080

          .         .         .         .         .         .       g.36513
 tgcctttctgtgatcggtttccctagggatgttgctgttcccctccttgctattcgcagc       c.*4140

          .         .         .         .         .         .       g.36573
 tacatacaacgtggccaaccccagtaggctgatcctatatatgatcagtgctggtgctga       c.*4200

          .         .         .         .         .         .       g.36633
 ctctcaatagccccacccaagctggctataggtttacagatacattaattaggcaaccta       c.*4260

          .         .         .         .         .         .       g.36693
 aaatattgatgctggtgttggtgtgacataatgctatggccagaactgaaacttagagtt       c.*4320

          .         .         .         .         .         .       g.36753
 ataattcatgtattagggttctccagagggacagaattagtaggatatatgtatatatga       c.*4380

          .         .         .         .         .         .       g.36813
 aagggaggttattagggagaactggctcccacagttagaaggcgaagtcgcacaataggc       c.*4440

          .         .         .         .         .         .       g.36873
 cgtctgcaagctgggttagagagaagccagtagtggctcagcctgagttcaaaaacctca       c.*4500

          .         .         .         .         .         .       g.36933
 aaactggggaagctgacagtgcagccagccttcagtctgtggccaaaggcccaagagccc       c.*4560

          .         .         .         .         .         .       g.36993
 ctggcaaccaacccactggtgcaagtcctagattccaaaggctgaagaacctggagtctg       c.*4620

          .         .         .         .         .         .       g.37053
 atgtccaagagcaggaagagtggaagaaagccagaagactcagcaaacaaggtagacagt       c.*4680

          .         .         .         .         .         .       g.37113
 gtctaccaccatagtggccataccaaagaggctaccgattccttcctgctacctggatcc       c.*4740

          .         .         .         .         .         .       g.37173
 ctgaagttgccctggtctctgcaccttctaaacctagttcttaagagctttccattacat       c.*4800

          .         .         .         .         .         .       g.37233
 gagctgtctcaaagccctccaataaattctcagtgtaagcttctgttgcttgtggacaga       c.*4860

          .         .         .         .         .         .       g.37293
 aaattctgacagacctaccctataagtgttactgtcaggataacatgagaacgcacaaca       c.*4920

          .         .         .         .         .         .       g.37353
 gtaagtggtcactaagtgttagctacggttattttgcccaaggtagcatggctagttgat       c.*4980

          .         .         .         .         .         .       g.37413
 gccggttgatggggcttaaacccagctccctcatcttccaggcctctgtactccctattc       c.*5040

          .         .         .         .         .         .       g.37473
 cactaaactacctctcaggtttatttttttaaattcttactctgcaagtacataggacca       c.*5100

          .         .         .         .         .         .       g.37533
 catttacctgggaaaacaagaataaaggctgctctgcattttttagaaacttttttgaaa       c.*5160

          .         .         .         .         .         .       g.37593
 gggagatgggaatgcctgcacccccaagtccagaccaacacaatggttaattgagatgaa       c.*5220

          .         .         .         .         .         .       g.37653
 taataaaggaaagactgttctgggcttcccagaatagcttggtccttaaattgtggcaca       c.*5280

          .         .         .         .         .         .       g.37713
 aacaacctcctgtcagagccagcctcctgccaggaagaggggtaggagactagaggccgt       c.*5340

          .         .         .         .         .         .       g.37773
 gtgtgcagccttgccctgaaggctagggtgacaatttggaggctgtccaaacaccctggc       c.*5400

          .         .         .         .         .         .       g.37833
 ctctagagctggcctgtctatttgaaatgccggctctgatgctaatcggcgaccctcagg       c.*5460

          .         .         .         .         .         .       g.37893
 caagttacttaaccttacatgcctcagttttctcatctggaaaatgagaaccctaggttt       c.*5520

          .         .         .         .         .         .       g.37953
 agggttgttagaaaagttaaatgagttaagacaagtgcctgggacacagtagcctcttgt       c.*5580

          .         .         .         .         .         .       g.38013
 gtgtgtttatcattatgtcctcagcaggtcgtagaagcagcttctcaggtgtgaggctgg       c.*5640

          .         .         .         .         .         .       g.38073
 cgcgattatctggagtgggttgggttttctaggatggaccccctgctgcattttcctcat       c.*5700

          .         .         .         .         .         .       g.38133
 tcatccaccagggcttaatggggaatcaaggaatccatgtgtaactgtataataactgta       c.*5760

          .         .         .         .         .         .       g.38193
 gccacactccaatgaccacctactagttgtccctggcactgcttatacatatgtccatca       c.*5820

          .         .         .         .         .         .       g.38253
 aatcaatcctatgaagtagatactgtcttcattttatagatcagagacaattggggttca       c.*5880

          .         .         .         .         .         .       g.38313
 gagagctgatgtgattttcccagggtcacagagagtcccagattcaggcacaactcttgt       c.*5940

          .         .         .         .         .         .       g.38373
 attccaagacacaaccactacatgtccaaaggctgcccagagccaccgggcacggcaaat       c.*6000

          .         .         .         .         .         .       g.38433
 tgtgacatatccctaaagaggctgagcacctggtcaggatctgatggctgacagtgtgtc       c.*6060

          .         .         .         .         .         .       g.38493
 cagatgcagagctggagtgggggaggggaaggggggctccttgggacagagaaggctttc       c.*6120

          .         .         .         .         .         .       g.38553
 tgtgctttctctgaagggagcagtctgaggaccaagggaacccggcaaacagcacctcag       c.*6180

          .         .         .         .         .         .       g.38613
 gtactccaggccctcctggctggagagggctgtggcaatggaaaattagtgccaactgca       c.*6240

          .         .         .         .         .         .       g.38673
 atgagtcagcctcggttaaatagagagtgaagaatgctggacaggaacctccaccctcat       c.*6300

          .         .         .         .         .         .       g.38733
 gtcacatttcttcagtgtgacccttctggcccctctcctcctgacagcggaacaatgact       c.*6360

          .         .         .         .         .         .       g.38793
 gccccgataggtgaggctggaggaagaatcagtcctgtccttggcaagctcttcactatg       c.*6420

          .         .         .         .         .         .       g.38853
 acagtaaaggctctctgcctgctgccaaggcctgtgactttctaacctggcctcacgctg       c.*6480

          .         .         .         .         .         .       g.38913
 ggtaagcttaaggtagaggtgcaggattagcaagcccacctggctaccaggccgacagct       c.*6540

          .         .         .         .         .         .       g.38973
 acatctttcaactgaccctgatcaacgaagagggacttgtgtctctcagttggttccaaa       c.*6600

          .         .         .         .         .         .       g.39033
 tgaaaccagggagcaggggcgttaggaagctccaacaggatggtacttaatggggcattt       c.*6660

          .         .         .         .         .         .       g.39093
 gagtggagaggtaggtgacatagtgctttggagcccagggagggaaaggttctgctgaag       c.*6720

          .         .         .         .         .         .       g.39153
 ttgaattcaagactgttctttcatcacaaacttgagtttcctggacatttgtttgcagaa       c.*6780

          .         .         .         .         .         .       g.39213
 acaaccgtagggttttgccttaacctcgtgggtttattattacctcatagggactttgcc       c.*6840

          .         .         .         .         .         .       g.39273
 tcctgacagcagtttatgggtgttcattgtggcacttgagttttcttgcatacttgttag       c.*6900

          .         .         .         .         .         .       g.39333
 agaaaccaagtttgtcatcaacttcttatttaaccccctggctataacttcatggattat       c.*6960

          .         .         .         .         .         .       g.39393
 gttataattaagccatccagagtaaaatctgtttagattatcttggagtaagggggaaaa       c.*7020

          .         .         .         .         .         .       g.39453
 aatctgtaattttttctcctcaactagatatatacataaaaaatgattgtattgcttcat       c.*7080

          .         .         .                                     g.39489
 ttaaaaaatataacgcaaaatctcttttccttctaa                               c.*7116

 (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 CD59 molecule, complement regulatory 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.