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

(used for variant description)

(last modified November 1, 2025)

This file was created to facilitate the description of sequence variants on transcript NM_002528.7 in the NTHL1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering NTHL1 transcript NM_002528.5.

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

 (upstream sequence)
                                                   .                g.5011
                                                  aggagtccggc       c.-1

          .         .         .         .         .         .       g.5071
 ATGACCGCCTTGAGCGCGAGGATGCTGACCCGGAGCCGGAGCCTGGGACCCGGGGCTGGG       c.60
 M  T  A  L  S  A  R  M  L  T  R  S  R  S  L  G  P  G  A  G         p.20

          .         .         .         .         .      | 02  .    g.6473
 CCGCGGGGGTGTAGGGAGGAGCCCGGGCCTCTCCGGAGAAGAGAGGCTGCAGCAG | AAGCG    c.120
 P  R  G  C  R  E  E  P  G  P  L  R  R  R  E  A  A  A  E |   A      p.40

          .         .         .         .         .         .       g.6533
 AGGAAAAGCCACAGCCCCGTGAAGCGTCCGCGGAAAGCACAGAGACTGCGTGTGGCCTAT       c.180
 R  K  S  H  S  P  V  K  R  P  R  K  A  Q  R  L  R  V  A  Y         p.60

          .         .         .         .         .         .       g.6593
 GAGGGCTCGGACAGTGAGAAAGGTGAGGGGGCTGAGCCCCTCAAGGTGCCAGTCTGGGAG       c.240
 E  G  S  D  S  E  K  G  E  G  A  E  P  L  K  V  P  V  W  E         p.80

          .         .         .         .         .         .       g.6653
 CCCCAGGACTGGCAGCAACAGCTGGTCAACATCCGTGCCATGAGGAACAAAAAGGATGCA       c.300
 P  Q  D  W  Q  Q  Q  L  V  N  I  R  A  M  R  N  K  K  D  A         p.100

          .         .         .         .         .     | 03   .    g.8040
 CCTGTGGACCATCTGGGGACTGAGCACTGCTATGACTCCAGTGCCCCCCCAAAG | GTACGC    c.360
 P  V  D  H  L  G  T  E  H  C  Y  D  S  S  A  P  P  K   | V  R      p.120

          .         .         .         .         .         .       g.8100
 AGGTACCAGGTGCTGCTGTCACTGATGCTCTCCAGCCAAACCAAAGACCAGGTGACGGCG       c.420
 R  Y  Q  V  L  L  S  L  M  L  S  S  Q  T  K  D  Q  V  T  A         p.140

          .         .         .         .         .         .       g.8160
 GGCGCCATGCAGCGACTGCGGGCGCGGGGCCTGACGGTGGACAGCATCCTGCAGACAGAT       c.480
 G  A  M  Q  R  L  R  A  R  G  L  T  V  D  S  I  L  Q  T  D         p.160

          .         .         .         .      | 04  .         .    g.9123
 GATGCCACGCTGGGCAAGCTCATCTACCCCGTCGGTTTCTGGAGG | AGCAAGGTGAAATAC    c.540
 D  A  T  L  G  K  L  I  Y  P  V  G  F  W  R   | S  K  V  K  Y      p.180

          .         .         .         .         .         .       g.9183
 ATCAAGCAGACCAGCGCCATCCTGCAGCAGCACTACGGTGGGGACATCCCAGCCTCTGTG       c.600
 I  K  Q  T  S  A  I  L  Q  Q  H  Y  G  G  D  I  P  A  S  V         p.200

          .         .         .         .         .         .       g.9243
 GCCGAGCTGGTGGCGCTGCCGGGTGTTGGGCCCAAGATGGCACACCTGGCTATGGCTGTG       c.660
 A  E  L  V  A  L  P  G  V  G  P  K  M  A  H  L  A  M  A  V         p.220

          .         .      | 05  .         .         .         .    g.12631
 GCCTGGGGCACTGTGTCAGGCATTG | CAGTGGACACGCATGTGCACAGAATCGCCAACAGG    c.720
 A  W  G  T  V  S  G  I  A |   V  D  T  H  V  H  R  I  A  N  R      p.240

          .         .         .         .         .         .       g.12691
 CTGAGGTGGACCAAGAAGGCAACCAAGTCCCCAGAGGAGACCCGCGCCGCCCTGGAGGAG       c.780
 L  R  W  T  K  K  A  T  K  S  P  E  E  T  R  A  A  L  E  E         p.260

          .  | 06      .         .         .         .         .    g.12836
 TGGCTGCCTAG | GGAGCTGTGGCACGAGATCAATGGACTCTTGGTGGGCTTCGGCCAGCAG    c.840
 W  L  P  R  |  E  L  W  H  E  I  N  G  L  L  V  G  F  G  Q  Q      p.280

          .         .         .         .         .         .       g.12896
 ACCTGTCTGCCTGTGCACCCTCGCTGCCACGCCTGCCTCAACCAAGCCCTCTGCCCGGCC       c.900
 T  C  L  P  V  H  P  R  C  H  A  C  L  N  Q  A  L  C  P  A         p.300

          .                                                         g.12911
 GCCCAGGGTCTCTGA                                                    c.915
 A  Q  G  L  X                                                      p.304

          .         .         .         .         .         .       g.12971
 tggccgcatggctctggccgaggtgccgctgtggccaccgtctgtgaagtggctttacgc       c.*60

          .         .         .         .                           g.13015
 ttcaggaagccacgcctgttgaataaagctttggtgtgtttgca                       c.*104

 (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.