nth endonuclease III-like 1 (E. coli) (NTHL1) - coding DNA reference sequence

(used for variant description)

(last modified June 6, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_002528.5 in the NTHL1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008412.1, covering NTHL1 transcript NM_002528.5.

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

 (upstream sequence)
                                                   .                g.5019
                                          ggccgcatgggccgccggg       c.-1

          .         .         .         .         .         .       g.5079
 ATGTGTAGTCCGCAGGAGTCCGGCATGACCGCCTTGAGCGCGAGGATGCTGACCCGGAGC       c.60
 M  C  S  P  Q  E  S  G  M  T  A  L  S  A  R  M  L  T  R  S         p.20

          .         .         .         .         .         .       g.5139
 CGGAGCCTGGGACCCGGGGCTGGGCCGCGGGGGTGTAGGGAGGAGCCCGGGCCTCTCCGG       c.120
 R  S  L  G  P  G  A  G  P  R  G  C  R  E  E  P  G  P  L  R         p.40

          .          | 02        .         .         .         .    g.6541
 AGAAGAGAGGCTGCAGCAG | AAGCGAGGAAAAGCCACAGCCCCGTGAAGCGTCCGCGGAAA    c.180
 R  R  E  A  A  A  E |   A  R  K  S  H  S  P  V  K  R  P  R  K      p.60

          .         .         .         .         .         .       g.6601
 GCACAGAGACTGCGTGTGGCCTATGAGGGCTCGGACAGTGAGAAAGGTGAGGGGGCTGAG       c.240
 A  Q  R  L  R  V  A  Y  E  G  S  D  S  E  K  G  E  G  A  E         p.80

          .         .         .         .         .         .       g.6661
 CCCCTCAAGGTGCCAGTCTGGGAGCCCCAGGACTGGCAGCAACAGCTGGTCAACATCCGT       c.300
 P  L  K  V  P  V  W  E  P  Q  D  W  Q  Q  Q  L  V  N  I  R         p.100

          .         .         .         .         .         .       g.6721
 GCCATGAGGAACAAAAAGGATGCACCTGTGGACCATCTGGGGACTGAGCACTGCTATGAC       c.360
 A  M  R  N  K  K  D  A  P  V  D  H  L  G  T  E  H  C  Y  D         p.120

          .         | 03         .         .         .         .    g.8108
 TCCAGTGCCCCCCCAAAG | GTACGCAGGTACCAGGTGCTGCTGTCACTGATGCTCTCCAGC    c.420
 S  S  A  P  P  K   | V  R  R  Y  Q  V  L  L  S  L  M  L  S  S      p.140

          .         .         .         .         .         .       g.8168
 CAAACCAAAGACCAGGTGACGGCGGGCGCCATGCAGCGACTGCGGGCGCGGGGCCTGACG       c.480
 Q  T  K  D  Q  V  T  A  G  A  M  Q  R  L  R  A  R  G  L  T         p.160

          .         .         .         .         .         .       g.8228
 GTGGACAGCATCCTGCAGACAGATGATGCCACGCTGGGCAAGCTCATCTACCCCGTCGGT       c.540
 V  D  S  I  L  Q  T  D  D  A  T  L  G  K  L  I  Y  P  V  G         p.180

           | 04        .         .         .         .         .    g.9191
 TTCTGGAGG | AGCAAGGTGAAATACATCAAGCAGACCAGCGCCATCCTGCAGCAGCACTAC    c.600
 F  W  R   | S  K  V  K  Y  I  K  Q  T  S  A  I  L  Q  Q  H  Y      p.200

          .         .         .         .         .         .       g.9251
 GGTGGGGACATCCCAGCCTCTGTGGCCGAGCTGGTGGCGCTGCCGGGTGTTGGGCCCAAG       c.660
 G  G  D  I  P  A  S  V  A  E  L  V  A  L  P  G  V  G  P  K         p.220

          .         .         .         .          | 05        .    g.12639
 ATGGCACACCTGGCTATGGCTGTGGCCTGGGGCACTGTGTCAGGCATTG | CAGTGGACACG    c.720
 M  A  H  L  A  M  A  V  A  W  G  T  V  S  G  I  A |   V  D  T      p.240

          .         .         .         .         .         .       g.12699
 CATGTGCACAGAATCGCCAACAGGCTGAGGTGGACCAAGAAGGCAACCAAGTCCCCAGAG       c.780
 H  V  H  R  I  A  N  R  L  R  W  T  K  K  A  T  K  S  P  E         p.260

          .         .         .      | 06  .         .         .    g.12844
 GAGACCCGCGCCGCCCTGGAGGAGTGGCTGCCTAG | GGAGCTGTGGCACGAGATCAATGGA    c.840
 E  T  R  A  A  L  E  E  W  L  P  R  |  E  L  W  H  E  I  N  G      p.280

          .         .         .         .         .         .       g.12904
 CTCTTGGTGGGCTTCGGCCAGCAGACCTGTCTGCCTGTGCACCCTCGCTGCCACGCCTGC       c.900
 L  L  V  G  F  G  Q  Q  T  C  L  P  V  H  P  R  C  H  A  C         p.300

          .         .         .                                     g.12943
 CTCAACCAAGCCCTCTGCCCGGCCGCCCAGGGTCTCTGA                            c.939
 L  N  Q  A  L  C  P  A  A  Q  G  L  X                              p.312

          .         .         .         .         .         .       g.13003
 tggccgcatggctctggccgaggtgccgctgtggccaccgtctgtgaagtggctttacgc       c.*60

          .         .         .         .                           g.13052
 ttcaggaagccacgcctgttgaataaagctttggtgtgtttgcagatgg                  c.*109

 (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 Nth endonuclease III-like 1 (E. coli) 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.