Indian hedgehog (IHH) - coding DNA reference sequence

(used for variant description)

(last modified April 3, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_002181.3 in the IHH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016741.1, covering IHH transcript NM_002181.3.

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

 (upstream sequence)
                     .         .         .         .                g.5049
            atcagcccaccaggagacctcgcccgccgctcccccgggctccccggcc       c.-1

          .         .         .         .         .         .       g.5109
 ATGTCTCCCGCCCGGCTCCGGCCCCGACTGCACTTCTGCCTGGTCCTGTTGCTGCTGCTG       c.60
 M  S  P  A  R  L  R  P  R  L  H  F  C  L  V  L  L  L  L  L         p.20

          .         .         .         .         .         .       g.5169
 GTGGTGCCGGCGGCATGGGGCTGCGGGCCGGGTCGGGTGGTGGGCAGCCGCCGGCGACCG       c.120
 V  V  P  A  A  W  G  C  G  P  G  R  V  V  G  S  R  R  R  P         p.40

          .         .         .         .         .         .       g.5229
 CCACGCAAACTCGTGCCGCTCGCCTACAAGCAGTTCAGCCCCAATGTGCCCGAGAAGACC       c.180
 P  R  K  L  V  P  L  A  Y  K  Q  F  S  P  N  V  P  E  K  T         p.60

          .         .         .         .         .         .       g.5289
 CTGGGCGCCAGCGGACGCTATGAAGGCAAGATCGCTCGCAGCTCCGAGCGCTTCAAGGAG       c.240
 L  G  A  S  G  R  Y  E  G  K  I  A  R  S  S  E  R  F  K  E         p.80

          .         .         .         .         .         .       g.5349
 CTCACCCCCAATTACAATCCAGACATCATCTTCAAGGACGAGGAGAACACAGGCGCCGAC       c.300
 L  T  P  N  Y  N  P  D  I  I  F  K  D  E  E  N  T  G  A  D         p.100

          .      | 02  .         .         .         .         .    g.7867
 CGCCTCATGACCCAG | CGCTGCAAGGACCGCCTGAACTCGCTGGCTATCTCGGTGATGAAC    c.360
 R  L  M  T  Q   | R  C  K  D  R  L  N  S  L  A  I  S  V  M  N      p.120

          .         .         .         .         .         .       g.7927
 CAGTGGCCCGGTGTGAAGCTGCGGGTGACCGAGGGCTGGGACGAGGACGGCCACCACTCA       c.420
 Q  W  P  G  V  K  L  R  V  T  E  G  W  D  E  D  G  H  H  S         p.140

          .         .         .         .         .         .       g.7987
 GAGGAGTCCCTGCATTATGAGGGCCGCGCGGTGGACATCACCACATCAGACCGCGACCGC       c.480
 E  E  S  L  H  Y  E  G  R  A  V  D  I  T  T  S  D  R  D  R         p.160

          .         .         .         .         .         .       g.8047
 AATAAGTATGGACTGCTGGCGCGCTTGGCAGTGGAGGCCGGCTTTGACTGGGTGTATTAC       c.540
 N  K  Y  G  L  L  A  R  L  A  V  E  A  G  F  D  W  V  Y  Y         p.180

          .         .         .        | 03.         .         .    g.9674
 GAGTCAAAGGCCCACGTGCATTGCTCCGTCAAGTCCG | AGCACTCGGCCGCAGCCAAGACG    c.600
 E  S  K  A  H  V  H  C  S  V  K  S  E |   H  S  A  A  A  K  T      p.200

          .         .         .         .         .         .       g.9734
 GGCGGCTGCTTCCCTGCCGGAGCCCAGGTACGCCTGGAGAGTGGGGCGCGTGTGGCCTTG       c.660
 G  G  C  F  P  A  G  A  Q  V  R  L  E  S  G  A  R  V  A  L         p.220

          .         .         .         .         .         .       g.9794
 TCAGCCGTGAGGCCGGGAGACCGTGTGCTGGCCATGGGGGAGGATGGGAGCCCCACCTTC       c.720
 S  A  V  R  P  G  D  R  V  L  A  M  G  E  D  G  S  P  T  F         p.240

          .         .         .         .         .         .       g.9854
 AGCGATGTGCTCATTTTCCTGGACCGCGAGCCTCACAGGCTGAGAGCCTTCCAGGTCATC       c.780
 S  D  V  L  I  F  L  D  R  E  P  H  R  L  R  A  F  Q  V  I         p.260

          .         .         .         .         .         .       g.9914
 GAGACTCAGGACCCCCCACGCCGCCTGGCACTCACACCCGCTCACCTGCTCTTTACGGCT       c.840
 E  T  Q  D  P  P  R  R  L  A  L  T  P  A  H  L  L  F  T  A         p.280

          .         .         .         .         .         .       g.9974
 GACAATCACACGGAGCCGGCAGCCCGCTTCCGGGCCACATTTGCCAGCCACGTGCAGCCT       c.900
 D  N  H  T  E  P  A  A  R  F  R  A  T  F  A  S  H  V  Q  P         p.300

          .         .         .         .         .         .       g.10034
 GGCCAGTACGTGCTGGTGGCTGGGGTGCCAGGCCTGCAGCCTGCCCGCGTGGCAGCTGTC       c.960
 G  Q  Y  V  L  V  A  G  V  P  G  L  Q  P  A  R  V  A  A  V         p.320

          .         .         .         .         .         .       g.10094
 TCTACACACGTGGCCCTCGGGGCCTACGCCCCGCTCACAAAGCATGGGACACTGGTGGTG       c.1020
 S  T  H  V  A  L  G  A  Y  A  P  L  T  K  H  G  T  L  V  V         p.340

          .         .         .         .         .         .       g.10154
 GAGGATGTGGTGGCATCCTGCTTCGCGGCCGTGGCTGACCACCACCTGGCTCAGTTGGCC       c.1080
 E  D  V  V  A  S  C  F  A  A  V  A  D  H  H  L  A  Q  L  A         p.360

          .         .         .         .         .         .       g.10214
 TTCTGGCCCCTGAGACTCTTTCACAGCTTGGCATGGGGCAGCTGGACCCCGGGGGAGGGT       c.1140
 F  W  P  L  R  L  F  H  S  L  A  W  G  S  W  T  P  G  E  G         p.380

          .         .         .         .         .         .       g.10274
 GTGCATTGGTACCCCCAGCTGCTCTACCGCCTGGGGCGTCTCCTGCTAGAAGAGGGCAGC       c.1200
 V  H  W  Y  P  Q  L  L  Y  R  L  G  R  L  L  L  E  E  G  S         p.400

          .         .         .                                     g.10310
 TTCCACCCACTGGGCATGTCCGGGGCAGGGAGCTGA                               c.1236
 F  H  P  L  G  M  S  G  A  G  S  X                                 p.411

          .         .         .         .         .         .       g.10370
 aaggactccaccgctgccctcctggaactgctgtactgggtccagaagcctctcagccag       c.*60

          .         .         .         .         .         .       g.10430
 gagggagctggccctggaagggacctgagctgggggacactggctcctgccatctcctct       c.*120

          .         .         .         .         .         .       g.10490
 gccatgaagatacaccattgagacttgactgggcaacaccagcgtcccccacccccgtcg       c.*180

          .         .         .         .         .         .       g.10550
 tggtgtagtcatagagctgcaagctgagctggcgaggggatggttgttgacccctctctc       c.*240

          .         .         .         .         .         .       g.10610
 ctagagaccttgaggctggcacggcgactcccaactcagcctgctctcactacgagtttt       c.*300

          .         .         .         .         .         .       g.10670
 catactctgcctcccccattggggagggcccattccatccatcttaggcccctttgggtg       c.*360

          .         .         .         .         .         .       g.10730
 ggcttgcgcctcagttgatgctgctaaattccctgggagccagcatggatctggctggac       c.*420

          .         .         .         .         .         .       g.10790
 ccgatgctgtccagaactgggaaggccacaggggtggggcagccatcccggccattctga       c.*480

          .         .         .         .         .         .       g.10850
 ggtatgacattcctccccggccacactcctcaagacacatccagagactgttgctgtctg       c.*540

          .         .         .         .         .         .       g.10910
 tgggcagagttctgtgttctggccaatgtgaccgtagtgccggggactgggggaggtggg       c.*600

          .         .         .         .         .         .       g.10970
 ttggatgtgcttgccacccccccggctaagctcccccttctgctgaaccatgatccccac       c.*660

          .         .         .         .         .         .       g.11030
 cccctccgccggtcagtctcccataccttatttattggagtggagggggaagcccatggg       c.*720

          .         .         .         .         .         .       g.11090
 agaattttggggatgttttggtcttttcttccttttgtaataaaaattatttaagttgtt       c.*780

                                                                    g.11097
 agagcca                                                            c.*787

 (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 Indian hedgehog 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.