solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3) - coding DNA reference sequence

(used for variant description)

(last modified October 19, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_003055.2 in the SLC18A3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_053144.1, covering SLC18A3 transcript NM_003055.2.

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

 (upstream sequence)
                                         .         .                g.5020
                                         ggaggaggcaagagccgacg       c.-421

 .         .         .         .         .         .                g.5080
 cgaggggaggggagcgcagcggcggggctaacgggcgggcaagcgggcgggcggcaacag       c.-361

 .         .         .         .         .         .                g.5140
 catgtccctcggccagcgcgggcggcctcttagcgcggcgggggctgctctgggcgcgcc       c.-301

 .         .         .         .         .         .                g.5200
 ccgggcgaagtgcgcccagtctccggccccggcccctcggcgcgcccgacttcccggccg       c.-241

 .         .         .         .         .         .                g.5260
 cccctgagcccagcagccgcgggtcccgggatcggctaagagtagctgcaacgcctcgcc       c.-181

 .         .         .         .         .         .                g.5320
 ggacggagtcctttcctttcccgggacgctgggccatgagctccgcggccacctgaggca       c.-121

 .         .         .         .         .         .                g.5380
 caggggagtctgctcggccaggacagcctccccgaagtcccgtgccctcgcctctgcact       c.-61

 .         .         .         .         .         .                g.5440
 gcgggacgccagcgctcggccctggcggaggcgtcctcggaagagcatcggggtgggggc       c.-1

          .         .         .         .         .         .       g.5500
 ATGGAATCCGCGGAACCTGCGGGCCAGGCCCGGGCGGCGGCCACCAAGCTGTCGGAGGCT       c.60
 M  E  S  A  E  P  A  G  Q  A  R  A  A  A  T  K  L  S  E  A         p.20

          .         .         .         .         .         .       g.5560
 GTGGGCGCGGCGCTGCAGGAGCCCCGGCGGCAGAGGCGCCTGGTGCTTGTTATCGTGTGC       c.120
 V  G  A  A  L  Q  E  P  R  R  Q  R  R  L  V  L  V  I  V  C         p.40

          .         .         .         .         .         .       g.5620
 GTGGCGCTGTTACTGGACAACATGCTGTACATGGTCATCGTGCCCATAGTGCCCGACTAC       c.180
 V  A  L  L  L  D  N  M  L  Y  M  V  I  V  P  I  V  P  D  Y         p.60

          .         .         .         .         .         .       g.5680
 ATCGCCCACATGCGCGGGGGCGGCGAGGGCCCCACCCGGACTCCCGAGGTGTGGGAGCCC       c.240
 I  A  H  M  R  G  G  G  E  G  P  T  R  T  P  E  V  W  E  P         p.80

          .         .         .         .         .         .       g.5740
 ACCCTGCCGCTGCCCACTCCGGCCAATGCCAGCGCCTACACGGCCAACACCTCGGCGTCC       c.300
 T  L  P  L  P  T  P  A  N  A  S  A  Y  T  A  N  T  S  A  S         p.100

          .         .         .         .         .         .       g.5800
 CCGACAGCTGCGTGGCCAGCGGGCTCAGCCCTTCGGCCCCGCTACCCTACGGAGAGCGAA       c.360
 P  T  A  A  W  P  A  G  S  A  L  R  P  R  Y  P  T  E  S  E         p.120

          .         .         .         .         .         .       g.5860
 GACGTGAAGATCGGGGTGCTGTTTGCTTCCAAGGCTATCCTGCAGCTGCTAGTGAACCCC       c.420
 D  V  K  I  G  V  L  F  A  S  K  A  I  L  Q  L  L  V  N  P         p.140

          .         .         .         .         .         .       g.5920
 TTGAGCGGGCCCTTCATCGACCGCATGAGCTACGACGTGCCGCTGCTGATCGGCCTGGGC       c.480
 L  S  G  P  F  I  D  R  M  S  Y  D  V  P  L  L  I  G  L  G         p.160

          .         .         .         .         .         .       g.5980
 GTCATGTTCGCCTCTACAGTCCTGTTCGCCTTCGCCGAGGACTACGCCACGCTGTTCGCG       c.540
 V  M  F  A  S  T  V  L  F  A  F  A  E  D  Y  A  T  L  F  A         p.180

          .         .         .         .         .         .       g.6040
 GCGCGCAGCCTGCAGGGCCTGGGCTCAGCCTTCGCCGACACGTCTGGCATAGCCATGATC       c.600
 A  R  S  L  Q  G  L  G  S  A  F  A  D  T  S  G  I  A  M  I         p.200

          .         .         .         .         .         .       g.6100
 GCCGATAAGTACCCGGAGGAGCCGGAGCGCAGTCGTGCACTGGGCGTGGCGCTGGCCTTC       c.660
 A  D  K  Y  P  E  E  P  E  R  S  R  A  L  G  V  A  L  A  F         p.220

          .         .         .         .         .         .       g.6160
 ATTAGCTTCGGAAGCCTAGTGGCCCCGCCCTTCGGGGGCATCCTCTATGAGTTCGCCGGC       c.720
 I  S  F  G  S  L  V  A  P  P  F  G  G  I  L  Y  E  F  A  G         p.240

          .         .         .         .         .         .       g.6220
 AAGCGCGTGCCCTTCTTGGTGCTAGCTGCCGTGTCGCTCTTTGACGCGCTGTTGCTGCTG       c.780
 K  R  V  P  F  L  V  L  A  A  V  S  L  F  D  A  L  L  L  L         p.260

          .         .         .         .         .         .       g.6280
 GCAGTGGCCAAACCCTTCTCGGCGGCTGCACGGGCTCGGGCCAACCTGCCAGTGGGCACT       c.840
 A  V  A  K  P  F  S  A  A  A  R  A  R  A  N  L  P  V  G  T         p.280

          .         .         .         .         .         .       g.6340
 CCCATCCACCGCCTCATGCTAGACCCCTACATTGCCGTGGTGGCCGGCGCGCTCACCACC       c.900
 P  I  H  R  L  M  L  D  P  Y  I  A  V  V  A  G  A  L  T  T         p.300

          .         .         .         .         .         .       g.6400
 TGTAACATTCCCCTCGCCTTCCTCGAACCCACCATTGCCACGTGGATGAAGCATACGATG       c.960
 C  N  I  P  L  A  F  L  E  P  T  I  A  T  W  M  K  H  T  M         p.320

          .         .         .         .         .         .       g.6460
 GCGGCTTCCGAGTGGGAGATGGGCATGGCCTGGCTGCCGGCCTTCGTGCCTCATGTGCTG       c.1020
 A  A  S  E  W  E  M  G  M  A  W  L  P  A  F  V  P  H  V  L         p.340

          .         .         .         .         .         .       g.6520
 GGCGTCTACCTCACCGTGCGCCTGGCGGCGCGCTACCCACACCTGCAGTGGCTGTACGGC       c.1080
 G  V  Y  L  T  V  R  L  A  A  R  Y  P  H  L  Q  W  L  Y  G         p.360

          .         .         .         .         .         .       g.6580
 GCGCTTGGGCTGGCTGTGATCGGCGCCAGCTCGTGCATCGTGCCCGCCTGCCGCTCCTTC       c.1140
 A  L  G  L  A  V  I  G  A  S  S  C  I  V  P  A  C  R  S  F         p.380

          .         .         .         .         .         .       g.6640
 GCGCCGCTAGTGGTCTCACTATGCGGCCTCTGTTTTGGCATAGCCCTAGTCGACACAGCA       c.1200
 A  P  L  V  V  S  L  C  G  L  C  F  G  I  A  L  V  D  T  A         p.400

          .         .         .         .         .         .       g.6700
 CTGCTGCCCACGCTCGCCTTCCTGGTGGACGTGCGCCATGTCTCAGTCTATGGCAGCGTC       c.1260
 L  L  P  T  L  A  F  L  V  D  V  R  H  V  S  V  Y  G  S  V         p.420

          .         .         .         .         .         .       g.6760
 TACGCCATCGCCGACATCTCCTATTCGGTGGCCTACGCGCTCGGGCCCATAGTGGCAGGC       c.1320
 Y  A  I  A  D  I  S  Y  S  V  A  Y  A  L  G  P  I  V  A  G         p.440

          .         .         .         .         .         .       g.6820
 CACATTGTGCACTCGCTGGGCTTTGAGCAGCTCAGCCTTGGCATGGGACTGGCCAACCTG       c.1380
 H  I  V  H  S  L  G  F  E  Q  L  S  L  G  M  G  L  A  N  L         p.460

          .         .         .         .         .         .       g.6880
 CTCTATGCTCCCGTCTTGCTGCTGCTCCGCAACGTGGGCCTCCTGACGCGCTCCCGTTCC       c.1440
 L  Y  A  P  V  L  L  L  L  R  N  V  G  L  L  T  R  S  R  S         p.480

          .         .         .         .         .         .       g.6940
 GAGCGCGATGTGCTGCTTGATGAGCCACCGCAAGGTCTGTACGATGCGGTGCGCCTGCGT       c.1500
 E  R  D  V  L  L  D  E  P  P  Q  G  L  Y  D  A  V  R  L  R         p.500

          .         .         .         .         .         .       g.7000
 GAGCGTCCTGTGTCTGGCCAGGACGGCGAGCCTCGCAGCCCGCCTGGCCCTTTTGATGCG       c.1560
 E  R  P  V  S  G  Q  D  G  E  P  R  S  P  P  G  P  F  D  A         p.520

          .         .         .                                     g.7039
 TGCGAGGACGACTACAACTACTACTACACCCGCAGCTAG                            c.1599
 C  E  D  D  Y  N  Y  Y  Y  T  R  S  X                              p.532

          .         .         .         .         .         .       g.7099
 catccccactcctcctccagcccacccaaccgccttgggtcaagggggctgctctgcaag       c.*60

          .         .         .         .         .         .       g.7159
 cccactggccagctctggctcagggcccacctcctccagcgagtaccccagccactcctc       c.*120

          .         .         .         .         .         .       g.7219
 aaccttgacttctgcccaaatcccctccctgtgacccgttccatatccctttctctcttg       c.*180

          .         .         .         .         .         .       g.7279
 tccaatggggcttggagcaccgaggccagcgaagccatcgcgctccttgcggaggtgaag       c.*240

          .         .         .         .         .         .       g.7339
 aggaccctgagtccccacctgcggctcccctgtgtagagcctgcatctgtctgtccttcc       c.*300

          .         .         .         .         .         .       g.7399
 ttccattgctcccagtgccaaacttgggccgctgcaccgcggcgcctccgcccaaatcaa       c.*360

          .         .                                               g.7420
 taaactgtgtctgtcccagga                                              c.*381

 (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 Solute carrier family 18 (vesicular acetylcholine), member 3 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.