phospholamban (PLN) - coding DNA reference sequence

(used for variant description)

(last modified April 23, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_002667.3 in the PLN gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering PLN transcript NM_002667.3.

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

 (upstream sequence)
                               .         .         .                g.5031
                              ctactgcaactgttcccataaactgggtgac       c.-181

 .         .         .         .         .         .                g.5091
 agagtcagaaaactccccagctaaacacccgtaagacttcatacaacacaatactctata       c.-121

 .         .         .   | 02     .         .         .             g.15583
 ctgtgatgatcacagctgccaag | gctacctaaaagaagacagttatctcatatttggctg    c.-61

 .         .         .         .         .         .                g.15643
 ccagctttttatctttctctcgaccacttaaaacttcagacttcctgtcctgctggtatc       c.-1

          .         .         .         .         .         .       g.15703
 ATGGAGAAAGTCCAATACCTCACTCGCTCAGCTATAAGAAGAGCCTCAACCATTGAAATG       c.60
 M  E  K  V  Q  Y  L  T  R  S  A  I  R  R  A  S  T  I  E  M         p.20

          .         .         .         .         .         .       g.15763
 CCTCAACAAGCACGTCAAAAGCTACAGAATCTATTTATCAATTTCTGTCTCATCTTAATA       c.120
 P  Q  Q  A  R  Q  K  L  Q  N  L  F  I  N  F  C  L  I  L  I         p.40

          .         .         .                                     g.15802
 TGTCTCTTGCTGATCTGTATCATCGTGATGCTTCTCTGA                            c.159
 C  L  L  L  I  C  I  I  V  M  L  L  X                              p.52

          .         .         .         .         .         .       g.15862
 agttctgctacaacctctagatctgcagcttgccacatcagcttaaaatctgtcatccca       c.*60

          .         .         .         .         .         .       g.15922
 tgcagacaggaaaacaatattgtataacagaccacttcctgagtagaagagtttctttgt       c.*120

          .         .         .         .         .         .       g.15982
 gaaaaggtcaagattaagactaaaacttattgttaccatatgtattcatctgttggatct       c.*180

          .         .         .         .         .         .       g.16042
 tgtaaacatgaaaagggctttattttcaaaaattaacttcaaaataagtgtataaaatgc       c.*240

          .         .         .         .         .         .       g.16102
 aactgttgatttcctcaacatggctcacaaatttctatcccaaatcttttctgaagatga       c.*300

          .         .         .         .         .         .       g.16162
 agagtttagttttaaaactgcactgccaacaagttcacttcatatataaagcattatttt       c.*360

          .         .         .         .         .         .       g.16222
 tactcttttgaggtgaatataatttatattacaatgtaaaagcttctttaatactaagta       c.*420

          .         .         .         .         .         .       g.16282
 tttttcaggtcttcaccaagtatcaaagtaataacacaaatgaagtgtcattattcaaaa       c.*480

          .         .         .         .         .         .       g.16342
 tagtccactgactcctcacatctgttatcttattataaagaactatttgtagtaactatc       c.*540

          .         .         .         .         .         .       g.16402
 agaatctacattctaaaacagaaattgtattttttctatgccacattaacatcttttaaa       c.*600

          .         .         .         .         .         .       g.16462
 gttgatgagaatcaagtatggaaaagtaaggccatactcttacataataaaattcctttt       c.*660

          .         .         .         .         .         .       g.16522
 aagtaattttttcaaagaatcacagaattctagtacatgtaggtaaatcataaatctgtt       c.*720

          .         .         .         .         .         .       g.16582
 ctaagacatatgatcaacagatgagaactggtggttaatatgtgacagtgagattagtca       c.*780

          .         .         .         .         .         .       g.16642
 tatcactaatatactaacaacagaatctaatcttcatttaaggcactgtagtgaattatc       c.*840

          .         .         .         .         .         .       g.16702
 tgagctagagttacctagcttaccatactatatctttggaatcatgaaaccttaagactt       c.*900

          .         .         .         .         .         .       g.16762
 cagaatgattttgcaggttgtcttccattccagcctaacatccaatgcaggcaaggaaaa       c.*960

          .         .         .         .         .         .       g.16822
 taaaagatttccagtgacagaaaaatatattatctcaagtattttttaaaaatatatgaa       c.*1020

          .         .         .         .         .         .       g.16882
 ttctctctccaaatattaactaattattagattatattttgaaatgaacttgttggccca       c.*1080

          .         .         .         .         .         .       g.16942
 tctattacatctacagctgacccttgaacatgggggttaggggagctgacaattcgtggg       c.*1140

          .         .         .         .         .         .       g.17002
 tccgcaaaatcttaactacctaatagcctactattgaccataaaccttactgataacata       c.*1200

          .         .         .         .         .         .       g.17062
 aacagtaaattaacacatattttgcgtgttatatgtattatacactatattcctacaata       c.*1260

          .         .         .         .         .         .       g.17122
 aagtaagctagagaaaatgttatttagaaaatcataagaaagagaaaatatatttactat       c.*1320

          .         .                                               g.17146
 tcattaaatggaagtgggtcaaca                                           c.*1344

 (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 Phospholamban 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.