synuclein, alpha (non A4 component of amyloid precursor) (SNCA) - coding DNA reference sequence

(used for variant description)

(last modified October 2, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_000345.3 in the SNCA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011851.1, covering SNCA transcript NM_000345.3.

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

 (upstream sequence)
                                         .         .                g.6120
                                      aggagaaggagaaggaggaggac       c.-241

 .         .         .         .         .         .                g.6180
 taggaggaggaggacggcgacgaccagaaggggcccaagagagggggcgagcgaccgagc       c.-181

 .         .         .         .         .         .                g.6240
 gccgcgacgcggaagtgaggtgcgtgcgggctgcagcgcagaccccggcccggcccctcc       c.-121

 .         .         .         .         .         .                g.6300
 gagagcgtcctgggcgctccctcacgccttgccttcaagccttctgcctttccaccctcg       c.-61

 .         .         .         .     | 02   .         .             g.7629
 tgagcggagaactgggagtggccattcgacgacag | tgtggtgtaaaggaattcattagcc    c.-1

          .         .         .         .         .         .       g.7689
 ATGGATGTATTCATGAAAGGACTTTCAAAGGCCAAGGAGGGAGTTGTGGCTGCTGCTGAG       c.60
 M  D  V  F  M  K  G  L  S  K  A  K  E  G  V  V  A  A  A  E         p.20

          .         .         .         .         .         .       g.7749
 AAAACCAAACAGGGTGTGGCAGAAGCAGCAGGAAAGACAAAAGAGGGTGTTCTCTATGTA       c.120
 K  T  K  Q  G  V  A  E  A  A  G  K  T  K  E  G  V  L  Y  V         p.40

   | 03      .         .         .         .    | 04    .         . g.20925
 G | GCTCCAAAACCAAGGAGGGAGTGGTGCATGGTGTGGCAACAG | TGGCTGAGAAGACCAAA c.180
 G |   S  K  T  K  E  G  V  V  H  G  V  A  T  V |   A  E  K  T  K   p.60

          .         .         .         .         .         .       g.20985
 GAGCAAGTGACAAATGTTGGAGGAGCAGTGGTGACGGGTGTGACAGCAGTAGCCCAGAAG       c.240
 E  Q  V  T  N  V  G  G  A  V  V  T  G  V  T  A  V  A  Q  K         p.80

          .         .         .         .         .         .       g.21045
 ACAGTGGAGGGAGCAGGGAGCATTGCAGCAGCCACTGGCTTTGTCAAAAAGGACCAGTTG       c.300
 T  V  E  G  A  G  S  I  A  A  A  T  G  F  V  K  K  D  Q  L         p.100

        | 05 .         .         .         .         .         .    g.114073
 GGCAAG | AATGAAGAAGGAGCCCCACAGGAAGGAATTCTGGAAGATATGCCTGTGGATCCT    c.360
 G  K   | N  E  E  G  A  P  Q  E  G  I  L  E  D  M  P  V  D  P      p.120

          .         .         . | 06       .         .         .    g.116666
 GACAATGAGGCTTATGAAATGCCTTCTGAG | GAAGGGTATCAAGACTACGAACCTGAAGCC    c.420
 D  N  E  A  Y  E  M  P  S  E   | E  G  Y  Q  D  Y  E  P  E  A      p.140

                                                                    g.116669
 TAA                                                                c.423
 X                                                                  p.140

          .         .         .         .         .         .       g.116729
 gaaatatctttgctcccagtttcttgagatctgctgacagatgttccatcctgtacaagt       c.*60

          .         .         .         .         .         .       g.116789
 gctcagttccaatgtgcccagtcatgacatttctcaaagtttttacagtgtatctcgaag       c.*120

          .         .         .         .         .         .       g.116849
 tcttccatcagcagtgattgaagtatctgtacctgcccccactcagcatttcggtgcttc       c.*180

          .         .         .         .         .         .       g.116909
 cctttcactgaagtgaatacatggtagcagggtctttgtgtgctgtggattttgtggctt       c.*240

          .         .         .         .         .         .       g.116969
 caatctacgatgttaaaacaaattaaaaacacctaagtgactaccacttatttctaaatc       c.*300

          .         .         .         .         .         .       g.117029
 ctcactatttttttgttgctgttgttcagaagttgttagtgatttgctatcatatattat       c.*360

          .         .         .         .         .         .       g.117089
 aagatttttaggtgtcttttaatgatactgtctaagaataatgacgtattgtgaaatttg       c.*420

          .         .         .         .         .         .       g.117149
 ttaatatatataatacttaaaaatatgtgagcatgaaactatgcacctataaatactaaa       c.*480

          .         .         .         .         .         .       g.117209
 tatgaaattttaccattttgcgatgtgttttattcacttgtgtttgtatataaatggtga       c.*540

          .         .         .         .         .         .       g.117269
 gaattaaaataaaacgttatctcattgcaaaaatattttatttttatcccatctcacttt       c.*600

          .         .         .         .         .         .       g.117329
 aataataaaaatcatgcttataagcaacatgaattaagaactgacacaaaggacaaaaat       c.*660

          .         .         .         .         .         .       g.117389
 ataaagttattaatagccatttgaagaaggaggaattttagaagaggtagagaaaatgga       c.*720

          .         .         .         .         .         .       g.117449
 acattaaccctacactcggaattccctgaagcaacactgccagaagtgtgttttggtatg       c.*780

          .         .         .         .         .         .       g.117509
 cactggttccttaagtggctgtgattaattattgaaagtggggtgttgaagaccccaact       c.*840

          .         .         .         .         .         .       g.117569
 actattgtagagtggtctatttctcccttcaatcctgtcaatgtttgctttacgtatttt       c.*900

          .         .         .         .         .         .       g.117629
 ggggaactgttgtttgatgtgtatgtgtttataattgttatacatttttaattgagcctt       c.*960

          .         .         .         .         .         .       g.117689
 ttattaacatatattgttatttttgtctcgaaataattttttagttaaaatctattttgt       c.*1020

          .         .         .         .         .         .       g.117749
 ctgatattggtgtgaatgctgtacctttctgacaataaataatattcgaccatgaataaa       c.*1080

          .         .         .         .         .         .       g.117809
 aaaaaaaaaaaagtgggttcccgggaactaagcagtgtagaagatgattttgactacacc       c.*1140

          .         .         .         .         .         .       g.117869
 ctccttagagagccataagacacattagcacatattagcacattcaaggctctgagagaa       c.*1200

          .         .         .         .         .         .       g.117929
 tgtggttaactttgtttaactcagcattcctcactttttttttttaatcatcagaaattc       c.*1260

          .         .         .         .         .         .       g.117989
 tctctctctctctctctttttctctcgctctctttttttttttttttttacaggaaatgc       c.*1320

          .         .         .         .         .         .       g.118049
 ctttaaacatcgttggaactaccagagtcaccttaaaggagatcaattctctagactgat       c.*1380

          .         .         .         .         .         .       g.118109
 aaaaatttcatggcctcctttaaatgttgccaaatatatgaattctaggatttttcctta       c.*1440

          .         .         .         .         .         .       g.118169
 ggaaaggtttttctctttcagggaagatctattaactccccatgggtgctgaaaataaac       c.*1500

          .         .         .         .         .         .       g.118229
 ttgatggtgaaaaactctgtataaattaatttaaaaattatttggtttctctttttaatt       c.*1560

          .         .         .         .         .         .       g.118289
 attctggggcatagtcatttctaaaagtcactagtagaaagtataatttcaagacagaat       c.*1620

          .         .         .         .         .         .       g.118349
 attctagacatgctagcagtttatatgtattcatgagtaatgtgatatatattgggcgct       c.*1680

          .         .         .         .         .         .       g.118409
 ggtgaggaaggaaggaggaatgagtgactataaggatggttaccatagaaacttcctttt       c.*1740

          .         .         .         .         .         .       g.118469
 ttacctaattgaagagagactactacagagtgctaagctgcatgtgtcatcttacactag       c.*1800

          .         .         .         .         .         .       g.118529
 agagaaatggtaagtttcttgttttatttaagttatgtttaagcaaggaaaggatttgtt       c.*1860

          .         .         .         .         .         .       g.118589
 attgaacagtatatttcaggaaggttagaaagtggcggttaggatatattttaaatctac       c.*1920

          .         .         .         .         .         .       g.118649
 ctaaagcagcatattttaaaaatttaaaagtattggtattaaattaagaaatagaggaca       c.*1980

          .         .         .         .         .         .       g.118709
 gaactagactgatagcagtgacctagaacaatttgagattaggaaagttgtgaccatgaa       c.*2040

          .         .         .         .         .         .       g.118769
 tttaaggatttatgtggatacaaattctcctttaaagtgtttcttcccttaatatttatc       c.*2100

          .         .         .         .         .         .       g.118829
 tgacggtaatttttgagcagtgaattactttatatatcttaatagtttatttgggaccaa       c.*2160

          .         .         .         .         .         .       g.118889
 acacttaaacaaaaagttctttaagtcatataagccttttcaggaagcttgtctcatatt       c.*2220

          .         .         .         .         .         .       g.118949
 cactcccgagacattcacctgccaagtggcctgaggatcaatccagtcctaggtttattt       c.*2280

          .         .         .         .         .         .       g.119009
 tgcagacttacattctcccaagttattcagcctcatatgactccacggtcggctttacca       c.*2340

          .         .         .         .         .         .       g.119069
 aaacagttcagagtgcactttggcacacaattgggaacagaacaatctaatgtgtggttt       c.*2400

          .         .         .         .         .         .       g.119129
 ggtattccaagtggggtctttttcagaatctctgcactagtgtgagatgcaaacatgttt       c.*2460

          .         .         .         .         .         .       g.119189
 cctcatctttctggcttatccagtatgtagctatttgtgacataataaatatatacatat       c.*2520

                                                                    g.119198
 atgaaaata                                                          c.*2529

 (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 Synuclein, alpha (non A4 component of amyloid precursor) 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.