calcium modulating ligand (CAMLG) - coding DNA reference sequence

(used for variant description)

(last modified May 30, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_001745.3 in the CAMLG gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000005.9, covering CAMLG transcript NM_001745.3.

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

 (upstream sequence)
                                         .         .                g.5021
                                        acaggctccgggaccgcgctc       c.-121

 .         .         .         .         .         .                g.5081
 gggggcgggtctatagtgggaaggggacgcgcgccctgcggcccggcctctagtcatcgc       c.-61

 .         .         .         .         .         .                g.5141
 cctcgcagcggcggccaacatcaccgccactgccacccctcccagactgtggacgggagg       c.-1

          .         .         .         .         .         .       g.5201
 ATGGAGTCGATGGCCGTCGCTACCGACGGCGGGGAGAGGCCGGGGGTCCCAGCGGGCTCA       c.60
 M  E  S  M  A  V  A  T  D  G  G  E  R  P  G  V  P  A  G  S         p.20

          .         .         .         .         .         .       g.5261
 GGTCTGTCGGCTTCCCAGCGTCGGGCGGAGCTGCGTCGGAGAAAGCTGCTCATGAACTCG       c.120
 G  L  S  A  S  Q  R  R  A  E  L  R  R  R  K  L  L  M  N  S         p.40

          .         .         .         .         .   | 02     .    g.7591
 GAACAGCGCATCAACCGGATCATGGGCTTTCACAGGCCCGGGAGCGGCGCGG | AAGAAGAA    c.180
 E  Q  R  I  N  R  I  M  G  F  H  R  P  G  S  G  A  E |   E  E      p.60

          .         .         .         .         .         .       g.7651
 AGTCAAACAAAATCAAAGCAGCAGGACAGTGATAAACTGAACTCCCTCAGCGTTCCTTCC       c.240
 S  Q  T  K  S  K  Q  Q  D  S  D  K  L  N  S  L  S  V  P  S         p.80

          .         .         .         .         .         .       g.7711
 GTTTCAAAGCGAGTAGTGCTGGGTGATTCAGTCAGTACAGGAACAACTGACCAGCAGGGT       c.300
 V  S  K  R  V  V  L  G  D  S  V  S  T  G  T  T  D  Q  Q  G         p.100

          .         .         .         .         .         .       g.7771
 GGTGTGGCCGAGGTAAAGGGGACCCAACTGGGAGACAAATTGGACTCGTTCATTAAACCA       c.360
 G  V  A  E  V  K  G  T  Q  L  G  D  K  L  D  S  F  I  K  P         p.120

          .         .         .         .         .         .       g.7831
 CCTGAGTGCAGTAGTGATGTCAACCTTGAGCTCCGGCAGCGGAACAGAGGGGACCTGACA       c.420
 P  E  C  S  S  D  V  N  L  E  L  R  Q  R  N  R  G  D  L  T         p.140

          .         .         .         .         .         .       g.7891
 GCGGACTCGGTCCAGAGGGGTTCCCGCCATGGCCTAGAGCAGTACCTTTCCAGATTCGAA       c.480
 A  D  S  V  Q  R  G  S  R  H  G  L  E  Q  Y  L  S  R  F  E         p.160

          .         .         .         .         .         .       g.7951
 GAAGCAATGAAGCTAAGGAAACAGCTGATTAGTGAAAAACCCAGTCAAGAGGATGGAAAT       c.540
 E  A  M  K  L  R  K  Q  L  I  S  E  K  P  S  Q  E  D  G  N         p.180

          .         .         .         .         .         .       g.8011
 ACAACAGAAGAATTTGACTCTTTTCGAATATTTAGATTGGTGGGATGTGCTCTTCTTGCT       c.600
 T  T  E  E  F  D  S  F  R  I  F  R  L  V  G  C  A  L  L  A         p.200

          .         .         .    | 03    .         .         .    g.10534
 CTTGGAGTCAGAGCTTTTGTTTGCAAATACTTG | TCCATATTTGCTCCATTTCTTACTTTA    c.660
 L  G  V  R  A  F  V  C  K  Y  L   | S  I  F  A  P  F  L  T  L      p.220

          .         .         .          | 04        .         .    g.17300
 CAACTTGCGTACATGGGATTATACAAATATTTTCCCAAG | AGTGAAAAGAAGATAAAGACA    c.720
 Q  L  A  Y  M  G  L  Y  K  Y  F  P  K   | S  E  K  K  I  K  T      p.240

          .         .         .         .         .         .       g.17360
 ACAGTACTAACAGCTGCACTTCTATTGTCGGGAATTCCTGCCGAAGTGATAAATCGATCA       c.780
 T  V  L  T  A  A  L  L  L  S  G  I  P  A  E  V  I  N  R  S         p.260

          .         .         .         .         .         .       g.17420
 ATGGATACCTATAGCAAAATGGGCGAAGTCTTCACAGATCTCTGTGTCTACTTTTTCACT       c.840
 M  D  T  Y  S  K  M  G  E  V  F  T  D  L  C  V  Y  F  F  T         p.280

          .         .         .         .         .                 g.17471
 TTTATCTTTTGTCATGAACTGCTTGATTATTGGGGCTCTGAAGTACCATGA                c.891
 F  I  F  C  H  E  L  L  D  Y  W  G  S  E  V  P  X                  p.296

          .         .         .         .         .         .       g.17531
 agcctgtagaactgagaaggagaagcttacaaaaaaaaaaaaatcctcttctatattgca       c.*60

          .         .         .         .         .         .       g.17591
 gtgtctctaaaggaggcaaattggtttacaccttcatgtaattcttttactttaggggtt       c.*120

          .         .         .         .         .         .       g.17651
 gtaaagctactttattagatatagaatggcagattctctgatttaaaagggctgagtttg       c.*180

          .         .         .         .         .         .       g.17711
 tattattactgatatgaagaatagagtaccaatgtcattaattgatttttcttgttaatc       c.*240

          .         .         .         .         .         .       g.17771
 agaattcctattctgtacctttcctctaacttctcagatttgtaattcttcttttgggag       c.*300

          .         .         .         .         .         .       g.17831
 ctgagctagtgcttttaggagaacagataaatgtggtctcagccagccctagagactgct       c.*360

          .         .         .         .         .         .       g.17891
 tcttgtgtttgtgtcattctgtcctgagaaatgaagtcatctgaaaaataaaatgaaaga       c.*420

          .         .         .         .         .         .       g.17951
 aactgaattgtctaatgttaactctgcacattgtaacttttcttgttgagttagtatctt       c.*480

          .         .         .         .         .         .       g.18011
 aatttttactccagcacaagtatttaatcaaagaaaagattcatacatgtgaaattggaa       c.*540

          .         .         .         .         .         .       g.18071
 ggtatttataaaatttttattgctgtataccaaactcagaattggaactttttacatttg       c.*600

          .         .         .         .         .         .       g.18131
 agtttcactttttagaagtatgttttaagcaagcaaaaacaaaatgggatgtgaagaatt       c.*660

          .         .         .         .         .         .       g.18191
 gaggcatgcaacccaatagcataaatgtcctttttccccccaaatatggtctagatgagt       c.*720

          .         .         .         .         .         .       g.18251
 tattataaacattgtttttatttttttgagacagagtttcgctcttgttgcccaggctag       c.*780

          .         .         .         .         .         .       g.18311
 agtgcaatggcgccatctcggctcaccgcaacctccaccttcctggttcaagggattctc       c.*840

          .         .         .         .         .         .       g.18371
 ctgcctcagcctcccaagtagctgggattacaggcatgcaccaccacgcccagctaattt       c.*900

          .         .         .         .         .         .       g.18431
 ttatattctttagtaaagacagggtttctccatgttggtcaggctggtctcgaacttctg       c.*960

          .         .         .         .         .         .       g.18491
 acctcaggtgatctgcccacctcggcctcccaaagtgctgggattacaggcgtgagccac       c.*1020

          .         .         .         .         .         .       g.18551
 tgcacctggccttataaatatccttttaactaactcagtaactgccatattttgttgggt       c.*1080

          .         .         .         .         .         .       g.18611
 tgtcttcttaaaagaatataagactaaagtgttaatgtcacttggtgttacatttcctta       c.*1140

          .         .         .         .         .         .       g.18671
 cagatttttgtatagtctaatttggttaatccttgtgacattaaaaacacatacactttt       c.*1200

          .                                                         g.18681
 taaaaaatta                                                         c.*1210

 (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 Calcium modulating ligand 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.