fibroblast growth factor 13 (FGF13) - coding DNA reference sequence

(used for variant description)

(last modified December 1, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_004114.3 in the FGF13 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering FGF13 transcript NM_004114.3.

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

 (upstream sequence)
                                                                    g.498360
                                                           gt       c.-661

 .         .         .         .         .         .                g.498420
 gccgcgcccagagcagcagcaacagcgaagatgcgaggccattacctgtttgatccctgt       c.-601

 .         .         .         .         .         .                g.498480
 cggaaacctggcacgggccaacttttcccgattatcacgccaagaagttgcaaggactag       c.-541

 .         .         .         .         .         .                g.498540
 tcgaagactcggaggggccagggcgagggcgcgctcccccgcgcgctgcctcgtccctcc       c.-481

 .         .         .         .         .         .                g.498600
 tccgtccggccgcccgagctcccggcctctctcccgcccgcgctcactccctccgcccgc       c.-421

 .         .         .         .         .         .                g.498660
 ctccctcctctggcccccatcagaagggcaacagggcgagggggtccggcgaaattcgga       c.-361

 .         .         .         .         .         .                g.498720
 ccggagcagctggacatgcacggtgtccgccgggcgcaggggccgaccacacgcagtcgc       c.-301

 .         .         .         .         .         .                g.498780
 gcagttcagcatccgcgtgccagtctcgcccgcgatcccgggcccggggctgtggcgtcg       c.-241

 .         .         .         .         .         .                g.498840
 actccgacccaggcagccagcagcccgcgcgggagccggaccgccgccggaggagctcgg       c.-181

 .         .         .         .         .         .                g.498900
 acggcatgctgagccccctccttggctgaagcccgagtgcggagaagcccgggcaaacgc       c.-121

 .         .         .         .         .         .                g.498960
 aggctaaggagaccaaagcggcgaagtcgcgagacagcggacaagcagcggaggagaagg       c.-61

 .         .         .         .         .         .                g.499020
 aggaggaggcgaacccagagaggggcagcaaaagaagcggtggtggtgggcgtcgtggcc       c.-1

          .         .         .         .         .         .       g.499080
 ATGGCGGCGGCTATCGCCAGCTCGCTCATCCGTCAGAAGAGGCAAGCCCGCGAGCGCGAG       c.60
 M  A  A  A  I  A  S  S  L  I  R  Q  K  R  Q  A  R  E  R  E         p.20

          .         .         .         .         .         .       g.499140
 AAATCCAACGCCTGCAAGTGTGTCAGCAGCCCCAGCAAAGGCAAGACCAGCTGCGACAAA       c.120
 K  S  N  A  C  K  C  V  S  S  P  S  K  G  K  T  S  C  D  K         p.40

          .         .         .         .         .         .       g.499200
 AACAAGTTAAATGTCTTTTCCCGGGTCAAACTCTTCGGCTCCAAGAAGAGGCGCAGAAGA       c.180
 N  K  L  N  V  F  S  R  V  K  L  F  G  S  K  K  R  R  R  R         p.60

         | 02.         .         .         .         .         .    g.501148
 AGACCAG | AGCCTCAGCTTAAGGGTATAGTTACCAAGCTATACAGCCGACAAGGCTACCAC    c.240
 R  P  E |   P  Q  L  K  G  I  V  T  K  L  Y  S  R  Q  G  Y  H      p.80

          .         .         .         .         .         | 03    g.506938
 TTGCAGCTGCAGGCGGATGGAACCATTGATGGCACCAAAGATGAGGACAGCACTTACA | CT    c.300
 L  Q  L  Q  A  D  G  T  I  D  G  T  K  D  E  D  S  T  Y  T |       p.100

          .         .         .         .         .         .       g.506998
 CTGTTTAACCTCATCCCTGTGGGTCTGCGAGTGGTGGCTATCCAAGGAGTTCAAACCAAG       c.360
 L  F  N  L  I  P  V  G  L  R  V  V  A  I  Q  G  V  Q  T  K         p.120

          .         .         .         .   | 04     .         .    g.574387
 CTGTACTTGGCAATGAACAGTGAGGGATACTTGTACACCTCG | GAACTTTTCACACCTGAG    c.420
 L  Y  L  A  M  N  S  E  G  Y  L  Y  T  S   | E  L  F  T  P  E      p.140

          .         .         .         .         .         .       g.574447
 TGCAAATTCAAAGAATCAGTGTTTGAAAATTATTATGTGACATATTCATCAATGATATAC       c.480
 C  K  F  K  E  S  V  F  E  N  Y  Y  V  T  Y  S  S  M  I  Y         p.160

          .         .         .         .         .         .       g.574507
 CGTCAGCAGCAGTCAGGCCGAGGGTGGTATCTGGGTCTGAACAAAGAAGGAGAGATCATG       c.540
 R  Q  Q  Q  S  G  R  G  W  Y  L  G  L  N  K  E  G  E  I  M         p.180

          .         .         .         .         .         .       g.574567
 AAAGGCAACCATGTGAAGAAGAACAAGCCTGCAGCTCATTTTCTGCCTAAACCACTGAAA       c.600
 K  G  N  H  V  K  K  N  K  P  A  A  H  F  L  P  K  P  L  K         p.200

   | 05      .         .         .         .         .         .    g.577097
 G | TGGCCATGTACAAGGAGCCATCACTGCACGATCTCACGGAGTTCTCCCGATCTGGAAGC    c.660
 V |   A  M  Y  K  E  P  S  L  H  D  L  T  E  F  S  R  S  G  S      p.220

          .         .         .         .         .         .       g.577157
 GGGACCCCAACCAAGAGCAGAAGTGTCTCTGGCGTGCTGAACGGAGGCAAATCCATGAGC       c.720
 G  T  P  T  K  S  R  S  V  S  G  V  L  N  G  G  K  S  M  S         p.240

          .                                                         g.577175
 CACAATGAATCAACGTAG                                                 c.738
 H  N  E  S  T  X                                                   p.245

          .         .         .         .         .         .       g.577235
 ccagtgagggcaaaagaagggctctgtaacagaaccttacctccaggtgctgttgaattc       c.*60

          .         .         .         .         .         .       g.577295
 ttctagcagtccttcacccaaaagttcaaatttgtcagtgacatttaccaaacaaacagg       c.*120

          .         .         .         .         .         .       g.577355
 cagagttcactattctatctgccattagaccttcttatcatccatactaaagccccatta       c.*180

          .         .         .         .         .         .       g.577415
 tttagattgagcttgtgcataagaatgccaagcattttagtgaactaaatctgagagaag       c.*240

          .         .         .         .         .         .       g.577475
 gactgccaaattttctcatgatctcacctatactttggggatgataatccaaaagtattt       c.*300

          .         .         .         .         .         .       g.577535
 cacagcactaatgctgatcaaaatttgctctcccaccaagaaaatgtaaaagaccacaat       c.*360

          .         .         .         .         .         .       g.577595
 tgttcttcaaaaacaaacaaaacaaaacaaaacaaaattaactgcttaaatgttttgtcg       c.*420

          .         .         .         .         .         .       g.577655
 gggcaaacaaaattatgtgaattgtgttgttttcttggcttgatgttttctatctacgct       c.*480

          .         .         .         .         .         .       g.577715
 tgattcacatgtactcttttctttggcatagtgcaactttatgatttctgaaattcaatg       c.*540

          .         .         .         .         .         .       g.577775
 gttctattgactttttgcgtcacttaatccaaatcaaccaaattcagggttgaatctgaa       c.*600

          .         .         .         .         .         .       g.577835
 ttggcttctcaggctcaaggtaacagtgttcttgtggtttgaccaattgtttttctttct       c.*660

          .         .         .         .         .         .       g.577895
 ttttttttttttttagatttgtggtattctggtcaagttattgtgctgtactttgtgcgt       c.*720

          .         .         .         .         .         .       g.577955
 agaaattgagttgtattgtcaaccccagtcagtaaagagaacttcaaaaaattatcctca       c.*780

          .         .         .         .         .         .       g.578015
 agtgtagatttctcttaattccatttgtgtatcatgttaaactattgttgtggcttcttg       c.*840

          .         .         .         .         .         .       g.578075
 tgtaaagacaggaactgtggaactgtgatgttgtcttttgtgttgttaaaataagaaatg       c.*900

          .         .         .         .         .         .       g.578135
 tcttatctgtatatgtatgagtcttcctgtcattgtatttggcacatgaatattgtgtac       c.*960

          .         .         .         .         .         .       g.578195
 aaggaattgttaagactggttttccctcaacaacatatattatacttgctactggaaaag       c.*1020

          .         .         .         .         .         .       g.578255
 tgtttaagacttagctaggtttccatttagatcttcatatctgttgcatggaagaaagtt       c.*1080

          .         .         .         .         .         .       g.578315
 gggttcttggcatagagttgcatgatatgtaagattttgtgcattcataattgttaaaaa       c.*1140

          .         .         .         .         .         .       g.578375
 tctgtgttccaaaagtggacatagcatgtacaggcagttttctgtcctgtgcacaaaaag       c.*1200

          .         .         .         .         .         .       g.578435
 tttaaaaaagttgtttaatatttgttgttgtatacccaaatacgcaccgaataaactctt       c.*1260

          .                                                         g.578452
 tatattcattcaaagaa                                                  c.*1277

 (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 Fibroblast growth factor 13 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.