neurofilament, light polypeptide (NEFL) - coding DNA reference sequence

(used for mutation description)

(last modified May 21, 2012)

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

The sequence was taken from NG_008492.1, covering NEFL transcript NM_006158.3.

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

 (upstream sequence)
                     .         .         .         .                g.5042
                   gagccgcacacagccatccatcctcccccttccctctctccc       c.-61

 .         .         .         .         .         .                g.5102
 ctgtcctctctctccgggctcccaccgccgccgcgggccggggagccaccggccgccacc       c.-1

          .         .         .         .         .         .       g.5162
 ATGAGTTCCTTCAGCTACGAGCCGTACTACTCGACCTCCTACAAGCGGCGCTACGTGGAG       c.60
 M  S  S  F  S  Y  E  P  Y  Y  S  T  S  Y  K  R  R  Y  V  E         p.20

          .         .         .         .         .         .       g.5222
 ACGCCCCGGGTGCACATCTCCAGCGTGCGCAGCGGCTACAGCACCGCACGCTCAGCTTAC       c.120
 T  P  R  V  H  I  S  S  V  R  S  G  Y  S  T  A  R  S  A  Y         p.40

          .         .         .         .         .         .       g.5282
 TCCAGCTACTCGGCGCCGGTGTCTTCCTCGCTGTCCGTGCGCCGCAGCTACTCCTCCAGC       c.180
 S  S  Y  S  A  P  V  S  S  S  L  S  V  R  R  S  Y  S  S  S         p.60

          .         .         .         .         .         .       g.5342
 TCTGGATCGTTGATGCCCAGTCTGGAGAACCTCGACCTGAGCCAGGTAGCCGCCATCAGC       c.240
 S  G  S  L  M  P  S  L  E  N  L  D  L  S  Q  V  A  A  I  S         p.80

          .         .         .         .         .         .       g.5402
 AACGACCTCAAGTCCATCCGCACGCAGGAGAAGGCGCAGCTCCAGGACCTCAATGACCGC       c.300
 N  D  L  K  S  I  R  T  Q  E  K  A  Q  L  Q  D  L  N  D  R         p.100

          .         .         .         .         .         .       g.5462
 TTCGCCAGCTTCATCGAGCGCGTGCACGAGCTGGAGCAGCAGAACAAGGTCCTGGAAGCC       c.360
 F  A  S  F  I  E  R  V  H  E  L  E  Q  Q  N  K  V  L  E  A         p.120

          .         .         .         .         .         .       g.5522
 GAGCTGCTGGTGCTGCGCCAGAAGCACTCCGAGCCATCCCGCTTCCGGGCGCTGTACGAG       c.420
 E  L  L  V  L  R  Q  K  H  S  E  P  S  R  F  R  A  L  Y  E         p.140

          .         .         .         .         .         .       g.5582
 CAGGAGATCCGCGACCTGCGCCTGGCGGCGGAAGATGCCACCAACGAGAAGCAGGCGCTC       c.480
 Q  E  I  R  D  L  R  L  A  A  E  D  A  T  N  E  K  Q  A  L         p.160

          .         .         .         .         .         .       g.5642
 CAGGGCGAGCGCGAAGGGCTGGAGGAGACCCTGCGCAACCTGCAGGCGCGCTATGAAGAG       c.540
 Q  G  E  R  E  G  L  E  E  T  L  R  N  L  Q  A  R  Y  E  E         p.180

          .         .         .         .         .         .       g.5702
 GAGGTGCTGAGCCGCGAGGACGCCGAGGGCCGGCTGATGGAAGCGCGCAAAGGCGCCGAC       c.600
 E  V  L  S  R  E  D  A  E  G  R  L  M  E  A  R  K  G  A  D         p.200

          .         .         .         .         .         .       g.5762
 GAGGCGGCGCTCGCTCGCGCCGAGCTCGAGAAGCGCATCGACAGCTTGATGGACGAAATC       c.660
 E  A  A  L  A  R  A  E  L  E  K  R  I  D  S  L  M  D  E  I         p.220

          .         .         .         .         .         .       g.5822
 TCTTTTCTGAAGAAAGTGCACGAAGAGGAGATCGCCGAACTGCAGGCGCAGATCCAGTAC       c.720
 S  F  L  K  K  V  H  E  E  E  I  A  E  L  Q  A  Q  I  Q  Y         p.240

          .         .         .         .         .         .       g.5882
 GCGCAGATCTCCGTGGAGATGGACGTGACCAAGCCCGACCTTTCCGCCGCGCTCAAGGAC       c.780
 A  Q  I  S  V  E  M  D  V  T  K  P  D  L  S  A  A  L  K  D         p.260

          .         .         .         .         .         .       g.5942
 ATCCGCGCGCAGTACGAGAAGCTGGCCGCCAAGAACATGCAGAACGCTGAGGAATGGTTC       c.840
 I  R  A  Q  Y  E  K  L  A  A  K  N  M  Q  N  A  E  E  W  F         p.280

          .         .         .         .         .         .       g.6002
 AAGAGCCGCTTCACCGTGCTGACCGAGAGCGCCGCCAAGAACACCGACGCCGTGCGCGCC       c.900
 K  S  R  F  T  V  L  T  E  S  A  A  K  N  T  D  A  V  R  A         p.300

          .         .         .         .         .         .       g.6062
 GCCAAGGACGAGGTGTCCGAGAGCCGTCGTCTGCTCAAGGCCAAGACCCTGGAAATCGAA       c.960
 A  K  D  E  V  S  E  S  R  R  L  L  K  A  K  T  L  E  I  E         p.320

          .         .         .         .         .         .       g.6122
 GCATGCCGGGGCATGAATGAAGCGCTGGAGAAGCAGCTGCAGGAGCTGGAGGACAAGCAG       c.1020
 A  C  R  G  M  N  E  A  L  E  K  Q  L  Q  E  L  E  D  K  Q         p.340

          .         .     | 02   .         .         .         .    g.7348
 AACGCCGACATCAGCGCTATGCAG | GACACGATCAACAAATTAGAAAATGAATTGAGGACC    c.1080
 N  A  D  I  S  A  M  Q   | D  T  I  N  K  L  E  N  E  L  R  T      p.360

          .         .         .         .         .         .       g.7408
 ACAAAGAGTGAAATGGCACGATACCTAAAAGAATACCAAGACCTCCTCAACGTGAAGATG       c.1140
 T  K  S  E  M  A  R  Y  L  K  E  Y  Q  D  L  L  N  V  K  M         p.380

          .         .          | 03        .         .         .    g.7853
 GCTTTGGATATTGAGATTGCAGCTTACAG | GAAACTCTTGGAAGGCGAGGAGACCCGACTC    c.1200
 A  L  D  I  E  I  A  A  Y  R  |  K  L  L  E  G  E  E  T  R  L      p.400

          .         .         .         .         .         .       g.7913
 AGTTTCACCAGCGTGGGAAGCATAACCAGTGGCTACTCCCAGAGCTCCCAGGTCTTTGGC       c.1260
 S  F  T  S  V  G  S  I  T  S  G  Y  S  Q  S  S  Q  V  F  G         p.420

          .         .         .         .         .         .       g.7973
 CGATCTGCCTACGGCGGTTTACAGACCAGCTCCTATCTGATGTCCACCCGCTCCTTCCCG       c.1320
 R  S  A  Y  G  G  L  Q  T  S  S  Y  L  M  S  T  R  S  F  P         p.440

          .         .         .         .         .         .       g.8033
 TCCTACTACACCAGCCATGTCCAAGAGGAGCAGATCGAAGTGGAGGAAACCATTGAGGCT       c.1380
 S  Y  Y  T  S  H  V  Q  E  E  Q  I  E  V  E  E  T  I  E  A         p.460

          .         .         .         .         .         .       g.8093
 GCCAAGGCTGAGGAAGCCAAGGATGAGCCCCCCTCTGAAGGAGAAGCCGAGGAGGAGGAG       c.1440
 A  K  A  E  E  A  K  D  E  P  P  S  E  G  E  A  E  E  E  E         p.480

          .         .         .         .          | 04        .    g.8676
 AAGGACAAGGAAGAGGCCGAGGAAGAGGAGGCAGCTGAAGAGGAAGAAG | CTGCCAAGGAA    c.1500
 K  D  K  E  E  A  E  E  E  E  A  A  E  E  E  E  A |   A  K  E      p.500

          .         .         .         .         .         .       g.8736
 GAGTCTGAAGAAGCAAAAGAAGAAGAAGAAGGAGGTGAAGGTGAAGAAGGAGAGGAAACC       c.1560
 E  S  E  E  A  K  E  E  E  E  G  G  E  G  E  E  G  E  E  T         p.520

          .         .         .         .         .         .       g.8796
 AAAGAAGCTGAAGAGGAGGAGAAGAAAGTTGAAGGTGCTGGGGAGGAACAAGCAGCTAAG       c.1620
 K  E  A  E  E  E  E  K  K  V  E  G  A  G  E  E  Q  A  A  K         p.540

          .                                                         g.8808
 AAGAAAGATTGA                                                       c.1632
 K  K  D  X                                                         p.543

          .         .         .         .         .         .       g.8868
 acccccatttccttaattatttcaggaataattctcccgaaatcaggtcaaccccatcac       c.*60

          .         .         .         .         .         .       g.8928
 caaccaaccaaccagttgagttccagattctatgtgaattaaaaagtcaatatatgtata       c.*120

          .         .         .         .         .         .       g.8988
 attctgagatgacttaggttggacattcaatgttgtgctatgaatttcctctttatgcag       c.*180

          .         .         .         .         .         .       g.9048
 agtatctgtttgcttgcagagtggctttctggcttgctgccagcctgtgcatggaccacg       c.*240

          .         .         .         .         .         .       g.9108
 cttatgagttcaggatctacggcaatgtgaatcattcagatgtttacaataaaaaacacc       c.*300

          .         .         .         .         .         .       g.9168
 acatgagtaaatgaattcactaatgttaatgttaaacttcatggaaaaatagtcctttga       c.*360

          .         .         .         .         .         .       g.9228
 accttcggtggttagcaattaaagaccctgagttatgtgcaataaatagtaaataaagtt       c.*420

          .         .         .         .         .         .       g.9288
 ataccgaatgatgtattttttgctgtggttgttacttaattaaaataccttaaagatggc       c.*480

          .         .         .         .         .         .       g.9348
 accaatataaagtatataccagtggactattgacctccaattttttaaaaagttgaaatt       c.*540

          .         .         .         .         .         .       g.9408
 ttaacaattaccaatacttttttttcttccttcaattggaaattctgagggatacagtta       c.*600

          .         .         .         .         .         .       g.9468
 tgtcatgattacttgtgaaatctctccccacaaaaattttactgataataaacatgagta       c.*660

          .         .         .         .         .         .       g.9528
 aatgagaaagtctataaataacaatagactttgcctcataacacgtgttgtgttaggttt       c.*720

          .         .         .         .         .         .       g.9588
 tgggatggctttctagggagcaattctgaaattacttgacagatacactctttatggtaa       c.*780

          .         .         .         .         .         .       g.9648
 acaggtcatttcagagtctagagtgctaaccattacactatggaaccatgataaataggt       c.*840

          .         .         .         .         .         .       g.9708
 catttcaaactgatatgtcacaatgcaatatggatagaatatgaatcccatacattcatc       c.*900

          .         .         .         .         .         .       g.9768
 cctataactgcattttaaaatatagtctaaatatcatgggaggaggttaaaacctgagaa       c.*960

          .         .         .         .         .         .       g.9828
 catggtacaataagaaggaataattttttatctatatataatttcaggagaagggattaa       c.*1020

          .         .         .         .         .         .       g.9888
 aactaccaaaggttatttgccactccactgcaaacatgttgcctgcaatcctgagctcat       c.*1080

          .         .         .         .         .         .       g.9948
 gatttagtgtgttgttaagcgtaattctgttgcctcaagtaaataccacttaatgctaca       c.*1140

          .         .         .         .         .         .       g.10008
 catttttaaacctttaaaagctacagacacaagtaatgaaattatgagtcacttaagggg       c.*1200

          .         .         .         .         .         .       g.10068
 ggaggtaatatgcttgtatgttacattgacattgctctgcatgtctctactgggagatat       c.*1260

          .         .         .         .         .         .       g.10128
 ttggatttcaatgatagcttgactggttggacattgcatcaaatacacgccccatgtatc       c.*1320

          .         .         .         .         .         .       g.10188
 ctttctgtcgtaaagttaagaacgctcttgcatttgatgtggaataaatatagatgatat       c.*1380

          .         .         .         .         .         .       g.10248
 tactatctgctattctgcctttgttctgaaacaattgctttgtcagctaatttcattcaa       c.*1440

          .         .         .         .         .         .       g.10308
 tatttgttttttagacgatctctataagttattaatttaacctgaaaccaaagtggtctc       c.*1500

          .         .         .         .         .         .       g.10368
 catttaaagttacttaatccctttgtaccacctatttctagttaaatatatgttgctatg       c.*1560

          .         .         .         .         .         .       g.10428
 caaataggtaaagtgcttccttgccatgatggtaatggattggaactatgaaggctctca       c.*1620

          .         .         .         .         .         .       g.10488
 gtgtattggcttctgtaaagatgaggcgtctcctcagaaacaaaacttttcacatttctg       c.*1680

          .         .         .         .         .         .       g.10548
 cttactagacctgggttgatgtacatggtaagtctcaaacagatgcaagctatgtgcaaa       c.*1740

          .         .         .         .         .         .       g.10608
 aagtaactttagccaaatggaaatagctggatgctttgagaattacttggttgaagtaag       c.*1800

          .         .         .         .         .                 g.10663
 aaaactgtaccatcctctatcctgtgtgccataataaaatagtaaaaaacctaaa            c.*1855

 (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 Neurofilament, light polypeptide 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.