SLX4 structure-specific endonuclease subunit (SLX4) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the SLX4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering SLX4 transcript NM_032444.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .                 g.57
 CTCTGTGAGCTCAAGGAGCTGTCACTGCCATCCACAGAGGTGGCCACGGATTCTTGA          c.57
 L  C  E  L  K  E  L  S  L  P  S  T  E  V  A  T  D  S  X            p.18

          .         .         .         .         .         .       g.117
 gaggctgggatctgggcgtcatcattgaggcctggaggtgcctccttggtgggcgacctg       c.*60

          .         .         .         .         .         .       g.177
 cttgggggtgtgatgctttcatgatgcttcctttgatgtcgggggcccttggtcttagca       c.*120

          .         .         .         .         .         .       g.237
 ggtcccttgggcctatgggccccaggtcctgtggtggcctcctgctgggcatggacccct       c.*180

          .         .         .         .         .         .       g.297
 gcccttgaaggcttgtaggtctgggaggcgagggtctggcagtgaggcgcctgcaacagc       c.*240

          .         .         .         .         .         .       g.357
 ggctgtgaggactggctctcgtcctcggagtctgagtccagggtctggtgagtgtactgg       c.*300

          .         .         .         .         .        | 02.    g.1675
 aatatctccttcagcttcagaaccatctggcgtttaggcagagggcggactccaaac | cta    c.*360

          .         .         .         .         .         .       g.1735
 tccagttccttcttcagcaccggcgtctccataatggaatactgtggcatcggcgttatg       c.*420

          .         .         .         . | 03       .         .    g.5925
 ggcactttggggggcaagttcttcttccgattagcacctt | tgggtgtctctaacccttcg    c.*480

          .         .         .         .         .         .       g.5985
 ggcttctgagctccaccagcgcttggcatctgggccggaggaggggtctctggaggcctc       c.*540

          .         .         .         .         .         .       g.6045
 tgctcttccccgtcccaaacgtcccacagagccgaattcagaaagctcggcctgctattc       c.*600

          .         .         .         .         .         .       g.6105
 cccagggagcccgcgcccgaggacttctcttgcaatttcctctgggtagtgcagcttcct       c.*660

          .         .         .         .         .         .       g.6165
 cggatgggggtggtgtccaggagtcccggggagcgacagtcacggctgtcggcggcctcg       c.*720

          .         .         .         .         .         .       g.6225
 ttcatcctgcggctggggctgctggtgctcagggggccggtccgctccaggttccagtgg       c.*780

          .         .         .         .         .         .       g.6285
 tcaatgggaattggcgagaggggctccatgtgccagcagcagtcgtcaattggaattggg       c.*840

          .         .         .         .         .         .       g.6345
 gggtcactgtccagtggggggcttctgttggcctgatgggaggccacctcctgctcatcg       c.*900

          .         .         .         .         .         .       g.6405
 tcactgtctccgacttccaccacttcacccgctggggtctggttcaggaagcttggccca       c.*960

          .         .         .         .         .         .       g.6465
 ggcggcgagtgtttcaggaaccgcctgctgaagtgggcgcggtcccctgagatgggatgt       c.*1020

          .         .         .         .         .         .       g.6525
 ggagccagcggagaggagtgcgggtggcccccggggtggggacgggaagggcttctgtgg       c.*1080

          .         .         .         .         .         .       g.6585
 ccttgccttctgccgtcagaagttcctggagagacgggagtgaggcatgaggacggtgtc       c.*1140

          .         .         .         .         .         .       g.6645
 tggggcggtggtgtctggggcctgatgacagaaaacttctgtgcgacttcgttcccttcc       c.*1200

          .         .         .         .         .         .       g.6705
 ctgtttcctactgaggccctgggcgtgtgctgagtcaccgcctgcacggccagcccgctc       c.*1260

          .         .         .         .         .         .       g.6765
 ctgaggctgctgatttgggtctgggaagaacagtcacggcttctgctggccagcggggtg       c.*1320

          .         .         .         .         .         .       g.6825
 gcgggcaccagccacgaggtgtctgtggtgctggcctcgctggggctgctctcacggtca       c.*1380

          .         .         .         .         .         .       g.6885
 cagaacagccagggagcccctctcctgcccaaagagccccgattctccggcagcgccccc       c.*1440

          .         .         .         .         .         .       g.6945
 tcatcctcctgctgcagcacagcttcgcttcttggtgggctctgggaaggttcctgatct       c.*1500

          .         .         .         .         .         .       g.7005
 gcatcaacatcaatgatggaaaacagctcacaggacctagggctaatttctagagctttc       c.*1560

          .         .         .         .         .         .       g.7065
 ttttcttccagaggatcactagaaatggacttcattttggtttgttctagctccagctcc       c.*1620

          .         .         .         .         .         .       g.7125
 tcatccgagtccagtaagaggatgacctcatcttcttcgttcagtttggatgaagatttc       c.*1680

          .         .         .         .         .         .       g.7185
 tgagatctggagctcgaatggtcaggatttgactgggttaggtcaatagacggagatttt       c.*1740

          .         .         .         .         .         .       g.7245
 tctgggaacatcaggacccccttatttctgcactccagcacggaccgacgctctttgcct       c.*1800

          .         .         .         .         .         .       g.7305
 ttctggtgccctggctctttagacagcgtgaggatgctcctgtcccttttctgctttgat       c.*1860

          .         .         .         .         .         .       g.7365
 ggcacagctggagacagcaaggttggggagcccacctgggaagttccgccacgggaccgg       c.*1920

          .         .         .         .         .         .       g.7425
 ggtgttgacagggacgacccacttgtgtgatgagacccgcggggactcccgccctgggga       c.*1980

          .         .         .         .         .         .       g.7485
 ggccccaataggaagcggcacgggtgcggtggagatgcctgccagggagccaggcgatga       c.*2040

          .         .         .         .         .         .       g.7545
 gaaacctccagccccctttccctgacagcgccactttgttcctcgggctcacttgttatt       c.*2100

          .         .         .         .         .         .       g.7605
 tgggacggctctgagatctctccctgagttgatgagaagagctgttcgtaatccccggca       c.*2160

          .         .         .         .         .         .       g.7665
 tcatctgagtgcggaagagagccttcttttctctctgcctggcagtccctggaagggctg       c.*2220

          .         .         .         .         .         .       g.7725
 gagcagctggaatggccaagcgcctcctctggcgcctcctgctcaggggcctctgctccc       c.*2280

          .         .         .         .         .         .       g.7785
 cgtgcccctgagtgctggccctggggtggcgggagagcgcactgtcccatcttctcccag       c.*2340

          .         .         .         .         .         .       g.7845
 gtggtggcggcctcatctcttcctggctccaacggctccatctcctccaccttgtcccac       c.*2400

          .         .         .         .         .         .       g.7905
 tgtttctgcacctggacacctgctaggagttgcccagaaaccggactgccaccctccagc       c.*2460

          .         .         .         .         .         .       g.7965
 cagtcagcgtcctcgccggcacccgctgccctttcttcctggagaagctttcgctgagta       c.*2520

          .         .         .         .         .         .       g.8025
 gctgcaaattcataaatttcttccatttctgcttcattcacgttttcttgatcttcttcg       c.*2580

          .         .         .         .         .         .       g.8085
 tggtccttggatttcaacaaagtctccgcttcctcctcttcatctgcccacattgacctc       c.*2640

          .         .         .         .         .         .       g.8145
 aagagttcctggaaattctcggccctgctttcgcaattctctgcttccttctcctcccat       c.*2700

          .         .         .         .         .         .       g.8205
 ggtttgccctctgagtcagtggcaataggcacctgttcgcacaggtgaacgagctcactc       c.*2760

           | 04        .         .         .         .         .    g.9653
 acgccaaac | ctgtgggccagggagctcagctcagagctaaggccaggaggaaggccagtg    c.*2820

          .         .         .         .         .         .       g.9713
 tccgcagtgtagagatagtgcaggaacgtgcgggcggcctcggtgctcacgtcacccagc       c.*2880

          .         .         .         .         .       | 05 .    g.11360
 aggacacgctgggtcagaaccccgtcctctacagcggagaagccttcattgttcac | atac    c.*2940

          .         .         .         .         .         .       g.11420
 tggatgaggagcgggcatcgggcataaagcacgaacttgtgggcgtaaagcacctccccg       c.*3000

          .         .         .         .         .         .       g.11480
 ctgtccgtctgaaactggacatcactcaggtgtgggttattgaccatggcgccaaagtca       c.*3060

          .         .    | 06    .         .         .         .    g.12545
 gcaaccagcagcccgagggagag | caaggtgcggccgcccctgtccgggtgcttgtcctgc    c.*3120

          .         .         .         .         .   | 07     .    g.13064
 gatggcaccacaaacccagtcagaggaaggccgccgggcaccacgtccaacc | ctgcagtc    c.*3180

          .         .         .         .         .         .       g.13124
 ccttccgagccagccaggcccccactgccgggccacgggctggcgctcagtccctccctc       c.*3240

          .         .         .         .         .         .       g.13184
 gccaggtccacgaggtcctgcagggcctggtgctccctctggctggccgaaggcgacggg       c.*3300

          .         .         .         .         .         .       g.13244
 cccctggagccacagcctgcagtgggggtgccgtggagagcgggtgaccttcgctcgctc       c.*3360

          .         .         .         .         .    | 08    .    g.14289
 agctctgagtgctcaggtggcaccagaggcggcacgggctcctgcataaggcc | ctgggca    c.*3420

          .         .         .         .         .         .       g.14349
 ggccgctggggcacgagaggagggaccagcctggccgtgtagaagtcctccatggcccag       c.*3480

          .         .         .         .         .         .       g.14409
 gccccagtcagtgcgctgccctcccacagaaagctctgcttgcgttcaggtggaggagga       c.*3540

          .         .         .         .         .         .       g.14469
 cactggcccgctctttcccacccttcctttaaaatcctgctggcaggaagtggtggcgtg       c.*3600

          .         .         .         .         .         .       g.14529
 ctagacaattccacttcctcagagaggagcagggccacacggtcctctatctgtcggcct       c.*3660

          .         .         .         .         .         .       g.14589
 gtggtttcagagtcctggactaacaacaatgggggggataccgggggtttcttcttgcga       c.*3720

          . | 09       .         .         .         .         .    g.14750
 cttttattct | ctgcttctggtcttatcctctcagaaaaggcactttccagcctgagcgct    c.*3780

          .         .         .         .         .         .       g.14810
 ggtacagccgcacccggctccatctccgaccgggacagagccatggccaccagcaggtcc       c.*3840

          .         .         .         .         .         .       g.14870
 tcggacggtgcctcgtccaccttccgcctcttccgtggctccttcttgctggtgggtcct       c.*3900

          .         .         .    | 10    .         .         .    g.17909
 ctccgtttcagacctctactgtgatcactgaag | ctgaacatgggtgggctgctgctaccc    c.*3960

          .         .         .         .         .         .       g.17969
 tcaggctgtgctgtctgcagccgcacagcctgaagcaggagctgggggccaacctccatc       c.*4020

          .         .         .         .         .         .       g.18029
 ttcacagcacactgcttcaagtgactggttctgctctttaaggtaagaaacggtttccca       c.*4080

          .         .         .         .         .         .       g.18089
 caaatcgggcactcagggatctgaggcacagaaggtcttagtgtcttttcagcttcatcc       c.*4140

        | 11 .         .         .         .         .         .    g.19075
 aagcac | ctgttcacatgctgttcccttcgggtcacgttcatggctgagaggttcttttga    c.*4200

          .         .         .         .         .         .       g.19135
 caaatctggcagaagaacaaacccttttcctccaggctatcatcatgtgccgatgctcct       c.*4260

          .         .         .         .         .         .       g.19195
 acccgtgcaaactcctgctgcagggtcaaggccaccgcagcgtcgctctctggggcaggg       c.*4320

          .       | 12 .         .         .         .         .    g.23421
 ggcccaagcccataca | cattccccgccatcatctcctcttgaggatcctttgggacattt    c.*4380

          .         .         .         .         .         .       g.23481
 tcttcccgcgcagcctcgagggagcactcttctgaagcgtgtctcaaacgctcggggtct       c.*4440

          .         .         .         .         .         .       g.23541
 gctctcttgaactgctgcattcgctgtaggaccaattgtgctgtgcggggtttggaggga       c.*4500

          .         .         .         .         .         .       g.23601
 cttggcactgctgttgtcaaacaggaaggaggaggctgggagtcgctgttgggcacattc       c.*4560

   | 13      .         .         .         .         .         .    g.25392
 t | ctctggttttctctctggaaaggtttggcgatggttcttgctggttacccgtctgggtg    c.*4620

          .         .         .         .         .         .       g.25452
 ttttgtgctgtttcccggagcacaggtggatctggagcagaggcaagcacacccccctcc       c.*4680

          .         .         .         .         .         .       g.25512
 ccattcacagagtgggccggttcacttgcttgccatttggttaccctttgctttttagtc       c.*4740

          .         .         .         .         .         .       g.25572
 ctaggggcctggctgccagacggaggtttcttctctgcagggccttgaagggttttggtc       c.*4800

          .         .         .         .         .         .       g.25632
 ttggtagcagtttgtttggtccttttcaatttgcttcttatctgagtgccgtttgaggca       c.*4860

          .         .         .         .         .         .       g.25692
 gccttttgtgtcttcctttctcctgacacttccttgattccatgttttttcaccctttgg       c.*4920

          .         .         .         .         .         .       g.25752
 aaaaagctagcgcagagttctttaaagtcctcatcagactcatccatcatctgaccagtt       c.*4980

          .         .         .         .         .         .       g.25812
 ttaaggctttcaggctggtcttcagaggagcgagggtcaatcccaggacaggcagacaga       c.*5040

          .         .         .         .         .         .       g.25872
 tgagaaagtgaacccaagtagaagcctagctgagcctcattcacactcagtttcattagg       c.*5100

          .         .         .         .         .         .       g.25932
 gttcttctctacttctccattagatacttggagagtttgcacaattgaacaaaaagtact       c.*5160

          .         .         .         .         .         .       g.25992
 gttttcctctctataatgattgaagtatctttgttcaaattgggcctgtggttaaacatg       c.*5220

          .         .         .         .         .         .       g.26052
 tttaaagcttccctctgttaaagtccacaactgggccgggcgcggtggctcacacttgta       c.*5280

          .         .         .         .         .         .       g.26112
 atcccagctcttttggaggacgaggcggggggtggatcacctgaggtcagaagttcgaga       c.*5340

          .         .         .         .         .         .       g.26172
 ccagcctggccaatatggtgaaacctcgtttcaactgaaaatacaaaaaattggccaggc       c.*5400

          .         .         .         .         .         .       g.26232
 gtggtagcagatgcctgtaatcccagctactcgggaggcagaggcaagagaatcgcttga       c.*5460

          .         .         .         .         .         .       g.26292
 acctgggaggcggagattgcagtgagccgagatcgtgccactgcactctaacctgggcaa       c.*5520

          .         .         .         .         .         .       g.26352
 caagagcaaaactctgtctcaaaaaataataataataaataaataaagttcacaactgaa       c.*5580

          .         .         .         .         .         .       g.26412
 agagtgttttgttgtccaatagatgcctctgagatcgaatacatatgaacctggtgctca       c.*5640

          .         .         .         .         .         | 14    g.28465
 gataattctccaagatctccatgatgatgaaacatatatggttcacttaattacacat | ct    c.*5700

          .         .    | 15    .         .         .         .                                        g.28525
 ccggcgccgccgcggcaccttct | g                                        c.*5724

 (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 SLX4 structure-specific endonuclease subunit 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.