keratin 83 (KRT83) - coding DNA reference sequence

(used for variant description)

(last modified December 7, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_002282.3 in the KRT83 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering KRT83 transcript NM_002282.3.

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

 (upstream sequence)
                                                                    g.5003
                                                          aca       c.-61

 .         .         .         .         .         .                g.5063
 ggcccttggttccatcctctgccatctactccactgttcagacacctcctaacctccgtc       c.-1

          .         .         .         .         .         .       g.5123
 ATGACCTGTGGCTTCAACTCCATAGGCTGTGGGTTCCGCCCTGGAAACTTCAGCTGTGTC       c.60
 M  T  C  G  F  N  S  I  G  C  G  F  R  P  G  N  F  S  C  V         p.20

          .         .         .         .         .         .       g.5183
 TCTGCCTGCGGGCCCCGGCCAAGCCGCTGCTGCATCACCGCCGCCCCCTACCGCGGCATC       c.120
 S  A  C  G  P  R  P  S  R  C  C  I  T  A  A  P  Y  R  G  I         p.40

          .         .         .         .         .         .       g.5243
 TCCTGCTACCGCGGCCTCACCGGGGGCTTTGGCAGCCACAGCGTGTGCGGGGGCTTCCGC       c.180
 S  C  Y  R  G  L  T  G  G  F  G  S  H  S  V  C  G  G  F  R         p.60

          .         .         .         .         .         .       g.5303
 GCCGGCTCCTGCGGACGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGACCCAGCCCC       c.240
 A  G  S  C  G  R  S  F  G  Y  R  S  G  G  V  C  G  P  S  P         p.80

          .         .         .         .         .         .       g.5363
 CCATGCATCACCACCGTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATA       c.300
 P  C  I  T  T  V  S  V  N  E  S  L  L  T  P  L  N  L  E  I         p.100

          .         .         .         .         .         .       g.5423
 GACCCCAACGCGCAGTGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGC       c.360
 D  P  N  A  Q  C  V  K  Q  E  E  K  E  Q  I  K  S  L  N  S         p.120

          .         .     | 02   .         .         .         .    g.7070
 AGATTCGCGGCCTTCATCGACAAG | GTGCGCTTCCTGGAGCAGCAGAACAAGCTGCTGGAG    c.420
 R  F  A  A  F  I  D  K   | V  R  F  L  E  Q  Q  N  K  L  L  E      p.140

          .         .         .         .         .         .       g.7130
 ACAAAGCTGCAGTTCTACCAAAACCGCGAGTGCTGCCAGAGTAACCTGGAGCCCCTGTTT       c.480
 T  K  L  Q  F  Y  Q  N  R  E  C  C  Q  S  N  L  E  P  L  F         p.160

          .         .         .         .         .         .       g.7190
 GCTGGCTACATCGAGACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCTGACAGTGGGAGG       c.540
 A  G  Y  I  E  T  L  R  R  E  A  E  C  V  E  A  D  S  G  R         p.180

          .         .         .         .         .    | 03    .    g.8435
 CTGGCCTCAGAGCTCAACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAA | GTATGAA    c.600
 L  A  S  E  L  N  H  V  Q  E  V  L  E  G  Y  K  K  K  |  Y  E      p.200

          .         .         .         .         .     | 04   .    g.8628
 GAAGAAGTAGCACTTCGAGCCACAGCAGAGAACGAGTTTGTGGCTCTAAAGAAG | GATGTG    c.660
 E  E  V  A  L  R  A  T  A  E  N  E  F  V  A  L  K  K   | D  V      p.220

          .         .         .         .         .         .       g.8688
 GACTGCGCCTACCTCCGCAAGTCAGACCTGGAGGCCAACGTGGAGGCCCTGATCCAGGAG       c.720
 D  C  A  Y  L  R  K  S  D  L  E  A  N  V  E  A  L  I  Q  E         p.240

          .         .         . | 05       .         .         .    g.9405
 ATTGACTTCCTGAGGCGGCTGTACGAGGAG | GAGATCCGCATTCTCCAATCCCACATCTCA    c.780
 I  D  F  L  R  R  L  Y  E  E   | E  I  R  I  L  Q  S  H  I  S      p.260

          .         .         .         .         .         .       g.9465
 GACACCTCCGTGGTTGTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCGTT       c.840
 D  T  S  V  V  V  K  L  D  N  S  R  D  L  N  M  D  C  I  V         p.280

          .         .         .         .         .         .       g.9525
 GCCGAGATCAAGGCACAGTATGATGACATTGCCACCCGTAGCCGGGCTGAGGCCGAGTCC       c.900
 A  E  I  K  A  Q  Y  D  D  I  A  T  R  S  R  A  E  A  E  S         p.300

          .      | 06  .         .         .         .         .    g.9850
 TGGTATCGCAGCAAG | TGTGAGGAGATGAAGGCCACAGTGATCAGGCACGGGGAGACCCTG    c.960
 W  Y  R  S  K   | C  E  E  M  K  A  T  V  I  R  H  G  E  T  L      p.320

          .         .         .         .         .         .       g.9910
 CGCCGCACCAAGGAGGAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACAGCCGAG       c.1020
 R  R  T  K  E  E  I  N  E  L  N  R  M  I  Q  R  L  T  A  E         p.340

          .         .  | 07      .         .         .         .    g.10324
 GTGGAGAATGCCAAGTGCCAG | AACTCCAAGCTGGAAGCTGCGGTGGCCCAGTCTGAGCAG    c.1080
 V  E  N  A  K  C  Q   | N  S  K  L  E  A  A  V  A  Q  S  E  Q      p.360

          .         .         .         .         .         .       g.10384
 CAGGGTGAGGCGGCCCTCAGTGATGCCCGCTGCAAGCTGGCCGAGCTGGAGGGCGCCCTG       c.1140
 Q  G  E  A  A  L  S  D  A  R  C  K  L  A  E  L  E  G  A  L         p.380

          .         .         .         .         .         .       g.10444
 CAGAAGGCCAAGCAAGACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCC       c.1200
 Q  K  A  K  Q  D  M  A  C  L  I  R  E  Y  Q  E  V  M  N  S         p.400

          .         .         .         .         .         .       g.10504
 AAGCTAGGCCTGGATATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAG       c.1260
 K  L  G  L  D  I  E  I  A  T  Y  R  R  L  L  E  G  E  E  Q         p.420

    | 08     .         .         .     | 09   .         .         . g.11606
 AG | GCTGTGTGAAGGTGTTGAAGCTGTGAATGTCT | GTGTCAGCAGCTCCCGGGGTGGGGTT c.1320
 R  |  L  C  E  G  V  E  A  V  N  V  C |   V  S  S  S  R  G  G  V   p.440

          .         .         .         .         .         .       g.11666
 GTGTGCGGGGATCTCTGCGTGTCGGGCTCCCGGCCGGTGACGGGCAGCGTCTGCAGTGCC       c.1380
 V  C  G  D  L  C  V  S  G  S  R  P  V  T  G  S  V  C  S  A         p.460

          .         .         .         .         .         .       g.11726
 CCCTGCAACGGGAACCTGGTGGTGAGCACTGGTTTGTGCAAGCCCTGTGGCCAGCTGAAC       c.1440
 P  C  N  G  N  L  V  V  S  T  G  L  C  K  P  C  G  Q  L  N         p.480

          .         .         .         .                           g.11768
 ACCACCTGTGGAGGGGGCTCCTGCGGCCAGGGGAGGCATTAA                         c.1482
 T  T  C  G  G  G  S  C  G  Q  G  R  H  X                           p.493

          .         .         .         .         .         .       g.11828
 gtggcccaaaagagagccaggggagccccttctgcctgccagacgtgccactgccccacc       c.*60

          .         .         .         .         .         .       g.11888
 accagctgaaaacagcagcacatcgctggcttttccccttgtgttctgagaatacaccat       c.*120

          .         .         .         .         .         .       g.11948
 cggctcattcccaccagcggctcctccccacctttcatcccactggaaaggggcctgtgg       c.*180

          .         .         .         .         .         .       g.12008
 ctggggaatagacccattccttcccctgtctcagccttcagcccctcccggggagaaggg       c.*240

          .         .         .         .         .         .       g.12068
 ccttgcttccctggaagaagcactgtgagactgttccccctgcctctctggcctcttgtc       c.*300

          .         .         .                                     g.12098
 tccccttttccaataaacttggggacctgc                                     c.*330

 (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 Keratin 83 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.