keratin 81 (KRT81) - 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_002281.3 in the KRT81 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering KRT81 transcript NM_002281.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5050
           actccaggtcccctatcctgtcctctgcaacccaaacgtccaggaggatc       c.-1

          .         .         .         .         .         .       g.5110
 ATGACCTGCGGATCAGGATTTGGTGGGCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCG       c.60
 M  T  C  G  S  G  F  G  G  R  A  F  S  C  I  S  A  C  G  P         p.20

          .         .         .         .         .         .       g.5170
 CGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATCTCCTGCTACCGCGGC       c.120
 R  P  G  R  C  C  I  T  A  A  P  Y  R  G  I  S  C  Y  R  G         p.40

          .         .         .         .         .         .       g.5230
 CTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGA       c.180
 L  T  G  G  F  G  S  H  S  V  C  G  G  F  R  A  G  S  C  G         p.60

          .         .         .         .         .         .       g.5290
 CGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGGCCCAGTCCCCCATGCATCACCACC       c.240
 R  S  F  G  Y  R  S  G  G  V  C  G  P  S  P  P  C  I  T  T         p.80

          .         .         .         .         .         .       g.5350
 GTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAG       c.300
 V  S  V  N  E  S  L  L  T  P  L  N  L  E  I  D  P  N  A  Q         p.100

          .         .         .         .         .         .       g.5410
 TGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTC       c.360
 C  V  K  Q  E  E  K  E  Q  I  K  S  L  N  S  R  F  A  A  F         p.120

           | 02        .         .         .         .         .    g.6280
 ATCGACAAG | GTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTC    c.420
 I  D  K   | V  R  F  L  E  Q  Q  N  K  L  L  E  T  K  L  Q  F      p.140

          .         .         .         .         .         .       g.6340
 TACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAG       c.480
 Y  Q  N  R  E  C  C  Q  S  N  L  E  P  L  F  E  G  Y  I  E         p.160

          .         .         .         .         .         .       g.6400
 ACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTT       c.540
 T  L  R  R  E  A  E  C  V  E  A  D  S  G  R  L  A  S  E  L         p.180

          .         .         .         | 03         .         .    g.7262
 AACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAA | GTATGAGGAGGAGGTTTCTCTG    c.600
 N  H  V  Q  E  V  L  E  G  Y  K  K  K  |  Y  E  E  E  V  S  L      p.200

          .         .         .          | 04        .         .    g.8080
 AGAGCAACAGCTGAGAACGAGTTTGTGGCTCTGAAGAAG | GATGTGGACTGCGCCTACCTC    c.660
 R  A  T  A  E  N  E  F  V  A  L  K  K   | D  V  D  C  A  Y  L      p.220

          .         .         .         .         .         .       g.8140
 CGCAAGTCAGACCTGGAGGCCAACGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGG       c.720
 R  K  S  D  L  E  A  N  V  E  A  L  I  Q  E  I  D  F  L  R         p.240

          .      | 05  .         .         .         .         .    g.8412
 CGGCTGTATGAGGAG | GAGATCCTCATTCTCCAGTCGCACATCTCAGACACCTCCGTGGTT    c.780
 R  L  Y  E  E   | E  I  L  I  L  Q  S  H  I  S  D  T  S  V  V      p.260

          .         .         .         .         .         .       g.8472
 GTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATTAAGGCA       c.840
 V  K  L  D  N  S  R  D  L  N  M  D  C  I  I  A  E  I  K  A         p.280

          .         .         .         .         .         .       g.8532
 CAGTATGACGACATTGTCACCCGCAGCCGGGCCGAGGCCGAGTCCTGGTACCGCAGCAAG       c.900
 Q  Y  D  D  I  V  T  R  S  R  A  E  A  E  S  W  Y  R  S  K         p.300

  | 06       .         .         .         .         .         .    g.8854
  | TGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAG    c.960
  | C  E  E  M  K  A  T  V  I  R  H  G  E  T  L  R  R  T  K  E      p.320

          .         .         .         .         .         .       g.8914
 GAGATCAATGAGCTGAACCGCATGATCCAAAGGCTGACGGCCGAGGTGGAGAATGCCAAG       c.1020
 E  I  N  E  L  N  R  M  I  Q  R  L  T  A  E  V  E  N  A  K         p.340

        | 07 .         .         .         .         .         .    g.9247
 TGCCAG | AACTCCAAGCTGGAGGCCGCGGTGGCCCAGTCTGAGCAGCAGGGTGAGGCGGCC    c.1080
 C  Q   | N  S  K  L  E  A  A  V  A  Q  S  E  Q  Q  G  E  A  A      p.360

          .         .         .         .         .         .       g.9307
 CTCAGTGATGCCCGCTGCAAGCTGGCCGAGCTGGAGGGCGCCCTGCAGAAGGCCAAGCAG       c.1140
 L  S  D  A  R  C  K  L  A  E  L  E  G  A  L  Q  K  A  K  Q         p.380

          .         .         .         .         .         .       g.9367
 GACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGAC       c.1200
 D  M  A  C  L  I  R  E  Y  Q  E  V  M  N  S  K  L  G  L  D         p.400

          .         .         .         .        | 08.         .    g.9706
 ATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAG | GCTATGTGAAGGC    c.1260
 I  E  I  A  T  Y  R  R  L  L  E  G  E  E  Q  R  |  L  C  E  G      p.420

          .          | 09        .         .         .         .    g.10063
 ATTGGGGCTGTGAATGTCT | GTGTCAGCAGCTCCCGGGGCGGGGTCGTGTGCGGGGACCTC    c.1320
 I  G  A  V  N  V  C |   V  S  S  S  R  G  G  V  V  C  G  D  L      p.440

          .         .         .         .         .         .       g.10123
 TGCGTGTCAGGCTCCCGGCCAGTGACTGGCAGTGTCTGCAGCGCTCCGTGCAACGGGAAC       c.1380
 C  V  S  G  S  R  P  V  T  G  S  V  C  S  A  P  C  N  G  N         p.460

          .         .         .         .         .         .       g.10183
 GTGGCGGTGAGCACCGGCCTGTGTGCGCCCTGCGGCCAATTGAACACCACCTGCGGAGGG       c.1440
 V  A  V  S  T  G  L  C  A  P  C  G  Q  L  N  T  T  C  G  G         p.480

          .         .         .         .         .         .       g.10243
 GGTTCCTGCGGCGTGGGCTCCTGTGGTATCAGCTCCCTGGGTGTGGGGTCTTGCGGCAGC       c.1500
 G  S  C  G  V  G  S  C  G  I  S  S  L  G  V  G  S  C  G  S         p.500

          .                                                         g.10261
 AGCTGCCGGAAATGTTAG                                                 c.1518
 S  C  R  K  C  X                                                   p.505

          .         .         .         .         .         .       g.10321
 gcaccccaactcaagtcccaggccccaggcatctttcctgccctgccttgcttggcccat       c.*60

          .         .         .         .         .         .       g.10381
 ccagtccaggcgcctggagcaagtgctcagctacttctcctgcactttgaaagacccctc       c.*120

          .         .         .         .         .         .       g.10441
 ccactcctggcctcacatttctctgtgtgatcccccacttctgggctctgccaccccaca       c.*180

          .         .         .         .         .         .       g.10501
 gtgggaaaggccaccctagaaagaagtccgctggcacccataggaaggggcctcaggagc       c.*240

          .         .         .         .         .         .       g.10561
 aggaagggccaggaccagaaccttgcccacggcaactgccttcctgcctctccccttcct       c.*300

          .         .         .         .                           g.10603
 cctctgctcttgatctgtgtttcaataaattaatgtagccaa                         c.*342

 (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 10th nucleotide is indicated by a "." above the sequence. The Keratin 81 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center