Cholinergic receptor, nicotinic, delta (CHRND) - coding DNA reference sequence

(used for mutation description)

(last modified February 12, 2011)


This file was created to facilitate the description of sequence variants in the CHRND gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008028.1, covering CHRND transcript NM_000751.1. The protein is N-terminally cleaved to obtain the mature CHRND protein, removing the signal peptide (amino acids 1-21). Publications describing variants in CHRND originally used the mature protein as a reference. 

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5004
                                                         tggg       c.-1

          .         .         .         .         .   | 02     .    g.5325
 ATGGAGGGGCCAGTGCTGACACTGGGGCTGCTGGCTGCCCTGGCGGTGTGTG | GCAGCTGG    c.60
 M  E  G  P  V  L  T  L  G  L  L  A  A  L  A  V  C  G |   S  W      p.20

          .         .         .         .         .         .       g.5385
 GGGCTGAACGAGGAGGAGCGGCTGATCCGGCACCTGTTTCAAGAGAAGGGCTACAACAAG       c.120
 G  L  N  E  E  E  R  L  I  R  H  L  F  Q  E  K  G  Y  N  K         p.40

          .         .         .         .         .         .       g.5445
 GAGCTCCGGCCCGTGGCACACAAAGAGGAGAGTGTGGACGTTGCCCTGGCCCTCACACTC       c.180
 E  L  R  P  V  A  H  K  E  E  S  V  D  V  A  L  A  L  T  L         p.60

          .         | 03         .         .         .         .    g.6231
 TCCAACCTCATCTCCCTG | AAAGAAGTTGAGGAGACCCTCACTACCAATGTGTGGATAGAG    c.240
 S  N  L  I  S  L   | K  E  V  E  E  T  L  T  T  N  V  W  I  E      p.80

     | 04    .         .         .         .         .         .    g.7107
 CAC | GGCTGGACAGACAACCGGCTGAAGTGGAATGCTGAAGAATTTGGAAACATCAGTGTC    c.300
 H   | G  W  T  D  N  R  L  K  W  N  A  E  E  F  G  N  I  S  V      p.100

          .         .         .         .         .    | 05    .    g.7296
 CTGCGCCTCCCCCCGGACATGGTGTGGCTCCCAGAGATTGTGCTGGAGAACAA | CAATGAC    c.360
 L  R  L  P  P  D  M  V  W  L  P  E  I  V  L  E  N  N  |  N  D      p.120

          .         .         .         .         .         .       g.7356
 GGCTCCTTCCAGATCTCCTACTCCTGCAACGTGCTTGTCTACCACTACGGCTTCGTGTAC       c.420
 G  S  F  Q  I  S  Y  S  C  N  V  L  V  Y  H  Y  G  F  V  Y         p.140

          .         .         .         .         .         .       g.7416
 TGGCTGCCACCTGCCATCTTCCGCTCCTCCTGCCCCATCTCTGTCACCTATTTCCCCTTC       c.480
 W  L  P  P  A  I  F  R  S  S  C  P  I  S  V  T  Y  F  P  F         p.160

          .         .          | 06        .         .         .    g.7681
 GACTGGCAGAACTGCTCCCTCAAGTTCAG | TTCCCTCAAGTATACGGCCAAAGAGATCACC    c.540
 D  W  Q  N  C  S  L  K  F  S  |  S  L  K  Y  T  A  K  E  I  T      p.180

          .         .         .         .         .         .       g.7741
 CTGAGCCTGAAACAGGATGCCAAGGAGAACCGCACCTACCCCGTGGAGTGGATCATCATT       c.600
 L  S  L  K  Q  D  A  K  E  N  R  T  Y  P  V  E  W  I  I  I         p.200

          .          | 07        .         .         .         .    g.8768
 GATCCTGAAGGCTTCACAG | AGAACGGGGAGTGGGAGATAGTCCACCGGCCGGCCAGGGTC    c.660
 D  P  E  G  F  T  E |   N  G  E  W  E  I  V  H  R  P  A  R  V      p.220

          .         .         .         .         .         .       g.8828
 AACGTGGACCCCAGAGCCCCTCTGGACAGCCCCAGCCGCCAGGACATCACCTTCTACCTC       c.720
 N  V  D  P  R  A  P  L  D  S  P  S  R  Q  D  I  T  F  Y  L         p.240

          .         .         .         .         .         .       g.8888
 ATCATCCGCCGCAAGCCCCTCTTCTACATCATCAACATCCTGGTGCCCTGCGTGCTCATC       c.780
 I  I  R  R  K  P  L  F  Y  I  I  N  I  L  V  P  C  V  L  I         p.260

          .         .         .         . | 08       .         .    g.10160
 TCCTTCATGGTCAACCTGGTCTTCTACCTACCGGCTGACA | GTGGTGAGAAGACATCAGTG    c.840
 S  F  M  V  N  L  V  F  Y  L  P  A  D  S |   G  E  K  T  S  V      p.280

          .         .         .         .         .         .       g.10220
 GCCATCTCGGTGCTCCTGGCTCAGTCTGTCTTCCTGCTGCTCATCTCCAAGCGTCTGCCT       c.900
 A  I  S  V  L  L  A  Q  S  V  F  L  L  L  I  S  K  R  L  P         p.300

          .         .         .   | 09     .         .         .    g.10358
 GCCACATCCATGGCCATCCCCCTTATCGGCAA | GTTCCTGCTCTTCGGCATGGTGCTGGTC    c.960
 A  T  S  M  A  I  P  L  I  G  K  |  F  L  L  F  G  M  V  L  V      p.320

          .         .         .         .         .         .       g.10418
 ACCATGGTTGTGGTGATCTGTGTCATCGTGCTCAACATCCACTTCCGAACACCCAGCACC       c.1020
 T  M  V  V  V  I  C  V  I  V  L  N  I  H  F  R  T  P  S  T         p.340

          .         .        | 10.         .         .         .    g.12752
 CATGTGCTGTCTGAGGGGGTCAAGAAG | CTCTTCCTGGAGACCCTGCCGGAGCTCCTGCAC    c.1080
 H  V  L  S  E  G  V  K  K   | L  F  L  E  T  L  P  E  L  L  H      p.360

          .         .         .         .         .         .       g.12812
 ATGTCCCGCCCAGCAGAGGATGGACCCAGCCCTGGGGCCCTGGTGCGGAGGAGCAGCTCC       c.1140
 M  S  R  P  A  E  D  G  P  S  P  G  A  L  V  R  R  S  S  S         p.380

          .         .         .         .         .         .       g.12872
 CTGGGATACATCTCCAAGGCCGAGGAGTACTTCCTGCTCAAGTCCCGCAGTGACCTCATG       c.1200
 L  G  Y  I  S  K  A  E  E  Y  F  L  L  K  S  R  S  D  L  M         p.400

          .         .         .         .         .   | 11     .    g.13020
 TTCGAGAAGCAGTCAGAGCGGCATGGGCTGGCCAGGCGCCTCACCACTGCAC | GCCGGCCC    c.1260
 F  E  K  Q  S  E  R  H  G  L  A  R  R  L  T  T  A  R |   R  P      p.420

          .         .         .         .         .         .       g.13080
 CCAGCAAGCTCTGAGCAGGCCCAGCAGGAACTCTTCAATGAGCTGAAGCCAGCTGTGGAT       c.1320
 P  A  S  S  E  Q  A  Q  Q  E  L  F  N  E  L  K  P  A  V  D         p.440

          .         .         .         .         .  | 12      .    g.13927
 GGGGCAAACTTCATTGTTAACCACATGAGGGACCAGAACAATTACAATGAG | GAGAAAGAC    c.1380
 G  A  N  F  I  V  N  H  M  R  D  Q  N  N  Y  N  E   | E  K  D      p.460

          .         .         .         .         .         .       g.13987
 AGCTGGAACCGAGTGGCCCGCACAGTGGACCGCCTCTGCCTGTTTGTGGTGACGCCTGTC       c.1440
 S  W  N  R  V  A  R  T  V  D  R  L  C  L  F  V  V  T  P  V         p.480

          .         .         .         .         .         .       g.14047
 ATGGTGGTGGGCACAGCCTGGATCTTCCTGCAGGGCGTTTACAACCAGCCACCACCCCAG       c.1500
 M  V  V  G  T  A  W  I  F  L  Q  G  V  Y  N  Q  P  P  P  Q         p.500

          .         .         .         .         .                 g.14101
 CCTTTTCCTGGGGACCCCTACTCCTACAACGTGCAGGACAAGCGCTTCATCTAG             c.1554
 P  F  P  G  D  P  Y  S  Y  N  V  Q  D  K  R  F  I  X               p.517

          .         .         .         .         .         .       g.14161
 ggtgggcctgttggggagccaggagacagcagggtctgagagaggagccacagtccctaa       c.*60

          .         .         .         .         .         .       g.14221
 tgacacccactcctagccctgaggctcgtgcccctcagactggggaagagtccaaggaag       c.*120

          .         .         .         .         .         .       g.14281
 ggagggagcagccactcctcaatgctcaatggctcccctgaaatcaagacaggggccacc       c.*180

                                                                    g.14284
 cga                                                                c.*183

 (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 Cholinergic receptor, nicotinic, delta 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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