LYR motif containing 7 (LYRM7) - coding DNA reference sequence

(used for variant description)

(last modified December 24, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_181705.2 in the LYRM7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering LYRM7 transcript NM_181705.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5013
                                                cagtctttgattg       c.-61

 .         .         .         .         .         .                g.5073
 gttgctgagaggcggggctactcgactgctctggaggtagcggccgcggtgaggagagcc       c.-1

          .         | 02         .         .         .         .    g.14189
 ATGGGACGGGCAGTCAAG | GTTTTACAGCTCTTTAAAACACTGCACAGGACCAGACAACAA    c.60
 M  G  R  A  V  K   | V  L  Q  L  F  K  T  L  H  R  T  R  Q  Q      p.20

          .         .         .  | 03      .         .         .    g.16310
 GTTTTTAAAAATGATGCCAGAGCATTAGAAG | CAGCCAGAATAAAGATAAATGAAGAATTC    c.120
 V  F  K  N  D  A  R  A  L  E  A |   A  R  I  K  I  N  E  E  F      p.40

          .         .         .         .   | 04     .         .    g.21098
 AAAAATAATAAAAGTGAAACTTCTTCTAAGAAAATAGAAGAG | CTAATGAAAATAGGTTCT    c.180
 K  N  N  K  S  E  T  S  S  K  K  I  E  E   | L  M  K  I  G  S      p.60

          .         .         .         .         .         .       g.21158
 GATGTTGAATTATTACTCAGAACATCTGTTATACAAGGTATTCACACAGACCACAATACA       c.240
 D  V  E  L  L  L  R  T  S  V  I  Q  G  I  H  T  D  H  N  T         p.80

      | 05   .         .         .         .         .         .    g.33639
 CTGA | AACTGGTCCCTAGGAAAGACCTTCTTGTAGAAAATGTGCCATATTGTGATGCACCA    c.300
 L  K |   L  V  P  R  K  D  L  L  V  E  N  V  P  Y  C  D  A  P      p.100

          .                                                         g.33654
 ACTCAGAAGCAATGA                                                    c.315
 T  Q  K  Q  X                                                      p.104

          .         .         .         .         .         .       g.33714
 gttttctagaatacaacaagtctttgtactttttaactttaaaatctacaactctggcaa       c.*60

          .         .         .         .         .         .       g.33774
 aagtcctggaaatgcagacattttccctgaactggcatattgaaaatgaatgaattacag       c.*120

          .         .         .         .         .         .       g.33834
 aatagcttcatatttaaatttcatgttaaaaggtcattactgagaactaaagaacataat       c.*180

          .         .         .         .         .         .       g.33894
 taagtatttctaaaggaaattagataagaaaacatttcattttcattgaaaatcaaattt       c.*240

          .         .         .         .         .         .       g.33954
 cataaagcaaagtaaatgcttagggagatatattcaatctttgaccttgatgagtatttg       c.*300

          .         .         .         .         .         .       g.34014
 atcttaccatagctatttgagaatgtggtgcttttacaaattggtgagttttcctgccat       c.*360

          .         .         .         .         .         .       g.34074
 gtgaaatgcaattattacatttaaattgttagattaaaatgatatttagtcctgaaaaat       c.*420

          .         .         .         .         .         .       g.34134
 attaaattggtcaaaaaaatcacagtgtatgccagctctctacagaaagtggcctttgtt       c.*480

          .         .         .         .         .         .       g.34194
 ttctaaagcactgggattatttctgtagctaatatataattgtacagtttctttttagag       c.*540

          .         .         .         .         .         .       g.34254
 atagagagtatctctgtgttcttatgaagacattttttatcagttttctgaaaatagatg       c.*600

          .         .         .         .         .         .       g.34314
 aataaaatattatagtcacctagggtcactatggaataaagaaatcctagtttaaagagg       c.*660

          .         .         .         .         .         .       g.34374
 aaatagtggcccttgatcaaactatttaatatggccttagtagaattagctgtatttaga       c.*720

          .         .         .         .         .         .       g.34434
 caaagttagactttagtgtgaaatgtaatcggtggctacattctcatcgttttaattaat       c.*780

          .         .         .         .         .         .       g.34494
 gaaacttaaatggcttctcttcttccacatgtcctgtccttgacaagatgggcagtatca       c.*840

          .         .         .         .         .         .       g.34554
 caaaaggtcctggcattctaccatctaacactaggaactgtaaaatactgtttaatattc       c.*900

          .         .         .         .         .         .       g.34614
 ttcttgtttctcttttatctgtgtatctttgccattctattttctcagtgaatagtatgt       c.*960

          .         .         .         .         .         .       g.34674
 tttctcccattcactgataaattctctcatttgatgatgatacagggtttttaatttttg       c.*1020

          .         .         .         .         .         .       g.34734
 caagattctcaatgcaagcattgttatgtatctagaaattatacctagagaaaaatgaaa       c.*1080

          .         .         .         .         .         .       g.34794
 gtcgtttcaaatttgaaatttgcccttttaagagaatgctgaatgtcatcgcagtatata       c.*1140

          .         .         .         .         .         .       g.34854
 atcactatataaatgtgctgacttacagttattttagtgtctatatgacatattttgagg       c.*1200

          .         .         .         .         .         .       g.34914
 aaagttggctgacgttatttaaatttaatatatattctatattttagtgttattgaatat       c.*1260

          .         .         .         .         .         .       g.34974
 tttatcactgagcttttttctttaacctgaattccctgttccatttttcattcatattaa       c.*1320

          .         .         .         .         .         .       g.35034
 tttaaataactccagatttctttcttatagtcattattagtagcagatgagattaataat       c.*1380

          .         .         .         .         .         .       g.35094
 tcacatgtttattaaagatagtggcttagaaattttaagatatattgatataggcccggg       c.*1440

          .         .         .         .         .         .       g.35154
 cgctgtggctcacacctgtaatcccgcactttgggaggctgaggcgggcagatcacaagg       c.*1500

          .         .         .         .         .         .       g.35214
 tcaggagttcgagaccagcctggccaatgtggtgaaaccccatctctactaaaaacacaa       c.*1560

          .         .         .         .         .         .       g.35274
 aaattagccaggtatggtggcgggcgcctgtagtcccagctactcgggaggctgaggcag       c.*1620

          .         .         .         .         .         .       g.35334
 gaaaatcacttgaacccgggaggtggaggttgcagtgaactgagattgtgccactgcact       c.*1680

          .         .         .         .         .         .       g.35394
 ccagcctgggggacagagtgagactctgtctcaaaaaaaaaaaagaaaaaaaaaggaaaa       c.*1740

          .         .         .         .         .         .       g.35454
 aggaaaaaaaaaagatatattgatacagataggtagatatgatattgtactttcatgcca       c.*1800

          .         .         .         .         .         .       g.35514
 taagactacacaataaagttcctgaaagttcctggctgggcgcagtggctcacgcctgta       c.*1860

          .         .         .         .         .         .       g.35574
 atcccagcactttgggaggccgaggcaggcagatcacctgaggtcaggagttctagacca       c.*1920

          .         .         .         .         .         .       g.35634
 gcctgaccaacatggggaaaccctgtctctactaaaaaaaatacagaattagccaggtgt       c.*1980

          .         .         .         .         .         .       g.35694
 ggtggcacatgtctgtaatcccagctactcgggagactgaggcaggagaattgcttgaac       c.*2040

          .         .         .         .         .         .       g.35754
 ccaggagacggaggttgcagtgagccgagatcgcaccattgcactccagcctaggcaaca       c.*2100

          .         .         .         .         .         .       g.35814
 agagtgaaactccgtctcaaaaataaataaataaataaagttcctgtgaagtatataaac       c.*2160

          .         .         .         .         .         .       g.35874
 atgtcaacaacaggcttgactgtcacaaaattctgaaagatgtcgcactctattcttata       c.*2220

          .         .         .         .         .         .       g.35934
 tagcatatgctaatttatttatttattttttgagattgagttctgctgtgtcacccaggt       c.*2280

          .         .         .         .         .         .       g.35994
 tggagtgcagtggcatggtcatggtccactaaagccttgacccctggggctcagcagtta       c.*2340

          .         .         .         .         .         .       g.36054
 tgccaactaagcctcccaaatagctgagactagaggtatgcgccaccacacctagctatt       c.*2400

          .         .         .         .         .         .       g.36114
 ttttttatttttagtaaggacaaggtctcattatgttggccaggctggtctcaaattcct       c.*2460

          .         .         .         .         .         .       g.36174
 gagctcagttgatcctcccacctcagcctcccaaagtgctgggattacaggtgtaagcca       c.*2520

          .         .         .         .         .         .       g.36234
 ctgcaccctgcctattcttataatcatatatttatatttcaaatggattttaactggtta       c.*2580

          .         .         .         .         .         .       g.36294
 tttaatagtttaattagataaagtaattcatggctgggtgtggtggctcacgcctgtaat       c.*2640

          .         .         .         .         .         .       g.36354
 cccagcactttggcaggctgaggcaggtggattacctgaggtcggaagttcgagaccagc       c.*2700

          .         .         .         .         .         .       g.36414
 ccaaccaacgtggagaaaccccatctctattaaaaatgcaaaattagcaggacatggtga       c.*2760

          .         .         .         .         .         .       g.36474
 tacacacctgtaatcccagctagtcaggaggctgaggcaggagaattacttgagccaggg       c.*2820

          .         .         .         .         .         .       g.36534
 aagcagaggttgtggtgagctaagattgtgccactgcactccagcctgagagaacaagac       c.*2880

          .         .         .         .         .         .       g.36594
 tccgtctcaaaaaaagaaaaaaagaaaacttttttacacatgggtatctcaccatgttgc       c.*2940

          .         .         .         .         .         .       g.36654
 ccaggctggagtgcagtagctattcataggcacagtcatagcacactgcagcctagaatt       c.*3000

          .         .         .         .         .         .       g.36714
 tctgacctcaagcaatcatcctgcctcagcctcctaagtagctaggactacaggtgcata       c.*3060

          .         .         .         .         .         .       g.36774
 ccaccataaccagctttaattaaatgttttttatttggttattttttttaagttttctgt       c.*3120

          .         .         .         .         .         .       g.36834
 attcacacaaggggttgcccaaatataattttgctttgactattgagatctagtgaaagt       c.*3180

          .         .         .         .         .         .       g.36894
 ggggtatatgaattctaattgcaaatatccaggctcagaggcccagcaggactttctaac       c.*3240

          .         .         .         .         .         .       g.36954
 acaatcttttagcggaagttagaaatggtatatagcaggagagtcagatttgagaagcat       c.*3300

          .         .         .         .         .         .       g.37014
 atgtagattcgaagctgggggaatatggcaggtagtttgtacaacatctaattcagaaca       c.*3360

          .         .         .         .         .         .       g.37074
 ttaaaattaagattttagtcaaactgtgtttaagttagttcttattttcctgtagatgca       c.*3420

          .         .         .         .         .         .       g.37134
 tctcacagcatcagtacaataccaaaaaagcacacaagaataagaatatgtggaatttct       c.*3480

          .         .         .         .         .         .       g.37194
 atacctattgacaaagcacataatttaaccataaacacaaagccataggtcaacaaagaa       c.*3540

          .         .         .         .         .         .       g.37254
 atgaagattccagttctgaaggtgagttttctgaagccaaagtggatacatgcaaaatta       c.*3600

          .         .         .         .         .         .       g.37314
 atatagttttactgtatatcagttgtcaccaatcagaaatggaaaacagatcctatttat       c.*3660

          .         .         .         .         .         .       g.37374
 aattgcaaacaaaactgtaaaatagactttttaaagtctgggaatagacttctaaaataa       c.*3720

          .         .         .         .         .         .       g.37434
 gctataacacttaaaaaggagagatatactatgttcctagataggacaattgaaaattct       c.*3780

          .         .         .         .         .         .       g.37494
 ggagatgacagtttttcaaaaatctattgaggccaggtgcagtggcccatgcctgtagtt       c.*3840

          .         .         .         .         .         .       g.37554
 ccagtactttgggaggcctaggtgggtggatcacctgaggttgggagtttgagaccagcc       c.*3900

          .         .         .         .         .         .       g.37614
 tgaccaacatggagaaaccccgtctctactaaaaatacaaaattagccaggcgtggtggt       c.*3960

          .         .         .         .         .         .       g.37674
 gcatgcctgtaatcccagctactcgggaggctgaggcgtgagaatcgcttgaacccggta       c.*4020

          .         .         .         .         .         .       g.37734
 ggcagatgttgcagtgagccgagatcgcaccattgcactccagcctaggcaacaagagcg       c.*4080

          .         .         .         .         .         .       g.37794
 aaactccatctcaaaaatagaaaaaacatttatcgaaatcccaacaagttgacaaatata       c.*4140

          .         .         .         .         .         .       g.37854
 tccacataaaaatataaaacttctgtattctgtgaaagctactataaataaagtttagag       c.*4200

          .         .         .         .         .         .       g.37914
 aaagttatttgccacctatgtcatgattgaaatagttaattgatcctgtgaatcagttag       c.*4260

          .         .         .         .         .         .       g.37974
 caaaacataactcaatggaaagataggcaaatgatacaaataagaaattcacaaaagaag       c.*4320

          .         .         .         .         .         .       g.38034
 aaatactaagtctctagtgatgagagaaatgtaaattaaaatgaaacatgtttgttcatc       c.*4380

          .         .         .         .         .         .       g.38094
 aagttgtcacaagttagacaatcatatccaatatttttaaaggttgtaagactataagga       c.*4440

          .         .         .         .         .         .       g.38154
 aatagccactgtcatatcatttttaaaggaatataaattatagggccttttgtttctttg       c.*4500

          .         .         .         .         .         .       g.38214
 ggttttttttttttagagacaagatctctccgtgttgtctaggctggactcaaacttctg       c.*4560

          .         .         .         .         .         .       g.38274
 gactcaagcaatcctcgcaacatcattaatagctgagagtagagacttgagccaccacac       c.*4620

          .         .         .         .         .         .       g.38334
 ctgactatagggcctttttgaaaggaaaattgacatcatcaaaattttaaatatattcag       c.*4680

          .         .         .         .         .         .       g.38394
 tctatttctcaaaaactcaaagaatactaataaatgtgtactcaggtatatgtacagaaa       c.*4740

          .         .         .         .         .         .       g.38454
 ttgctgtaacattataattttaaacaatttaaaacagactgagtttccaaagttagggta       c.*4800

          .         .         .         .         .         .       g.38514
 caatgaaagaaaaggtggcttatttatactctggaatattttccaagagttgaaaaggat       c.*4860

          .         .         .         .         .         .       g.38574
 gaggatacacacacacacacacacacacacacacacacacacacacacacacagtttggg       c.*4920

          .         .         .         .         .         .       g.38634
 tatccctaatccagaaattcaaatgctccaaagtccaaaactttctgacccaccaacatg       c.*4980

          .         .         .         .         .         .       g.38694
 actgatgctcaaaggaaatggccactggaagatttcagattttcagatttggagtgctca       c.*5040

          .         .         .         .         .         .       g.38754
 accagtaagtatataatgcaaataatccaaaatacaaaaaaaaaaaaaaagaaatctgaa       c.*5100

          .         .         .         .         .         .       g.38814
 acacttctgatcccaagcatttcagaaaacggatgttcatttgtgtgtgtgtgtgtgtgt       c.*5160

          .         .         .         .         .         .       g.38874
 aagcaggtgttgctagaaattcacttatatacaagaaaactttttgtgtacatatttgca       c.*5220

          .         .         .         .         .         .       g.38934
 tatatatgtacaaatgggtagaaacgatacatgattaatcttaatcgggaaggaaaagag       c.*5280

          .         .         .         .         .         .       g.38994
 atttagggaaggaagcagtaagtgagaacttttattctatttactcctgcacgtttaaat       c.*5340

          .         .         .         .         .         .       g.39054
 attgtttacagtgagtatatcaacatgtaagtgttaaaagacaataagctactagtgatt       c.*5400

          .         .         .         .         .         .       g.39114
 tttaatataaaattaactataaaatattttaaatattagcaaataatatagcacactcat       c.*5460

          .         .         .         .         .         .       g.39174
 gaacctaattcccacatttgatagttgttacattttgccatgtttgtttaaaggtctaag       c.*5520

          .         .         .         .         .         .       g.39234
 tcataaaatcttataaagctaaaccccacccttctctttctcctctctctccaggataat       c.*5580

          .         .         .         .         .         .       g.39294
 tactgttttatagtttgtggatatcattcccttacttgtgtttatacttttaccaagtgt       c.*5640

          .         .         .         .         .         .       g.39354
 gtatgtattcaaaaaacagttgttttgtgattttaaaatgtaaatgaatggcgttatgct       c.*5700

          .         .         .         .         .         .       g.39414
 ccatgtattctgcaacttttcatcatacattaggttttggcgatttagccataatttggc       c.*5760

          .         .         .         .         .         .       g.39474
 atgaattcaggtcttttaagttttattccattgtaagaataaacaagtttgttcattcat       c.*5820

                                                                    g.39479
 gtctc                                                              c.*5825

 (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 LYR motif containing 7 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.