• SETXsenataxin
  • Detail information

    Gene Symbol SETX
    Full name senataxin
    Synonym ALS4, AOA2, DKFZp781B151, FLJ12840, FLJ43459, KIAA0625, SCAR1, bA479K20.2
    Genome position chromosome: 9; Location: 9q34.13
    135230371 .. 135136826 (strand : -)
    Links EntrezGene
    UCSC
    OMIM

    The GRCh37/hg19 sequence assembly is used for the human genomic reference sequence.
  • Sequence information

    Exon : Intron 100:1 50:1 10:1 3:1 1:1   Age onset & duration hide show

    expanded image




    a.a. : NP_055861.3

    mRNA : NM_015046.5
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  • Mutation & Clinical information

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  • Multiple alignments

    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)

    Multiple alignments of orthologous sequences
  • 3D structure

    3D Structure data is not found.
  • Structure information

    Exon Start AA End AA Structure
    1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24 1 2677 Chain
    12 1963 1970 Nucleotide phosphate-binding region
    24 2661 2677 Region of interest
    15, 16, 17 2105 2136 Coiled-coil region
    14, 15 2070 2087 Short sequence motif
    8 1017 1017 Modified residue
    8 1019 1019 Modified residue
    8 1621 1621 Modified residue
    21, 22 2367 2399 Splice variant
    23 2429 2429 Splice variant
    1 3 3 Sequence variant
    5 274 274 Sequence variant
    6 305 305 Sequence variant
    6 332 332 Sequence variant
    8 389 389 Sequence variant
    8 413 413 Sequence variant
    8 603 603 Sequence variant
    8 653 653 Sequence variant
    8 660 660 Sequence variant
    8 1061 1061 Sequence variant
    8 1152 1152 Sequence variant
    8 1192 1192 Sequence variant
    8 1252 1252 Sequence variant
    8 1294 1294 Sequence variant
    8 1331 1331 Sequence variant
    8 1386 1386 Sequence variant
    8 1756 1756 Sequence variant
    11 1855 1855 Sequence variant
    17 2136 2136 Sequence variant
    18 2213 2213 Sequence variant
    22 2368 2368 Sequence variant
    24 2587 2587 Sequence variant
    24 2612 2612 Sequence variant
    8 657 657 Sequence conflict
    8 866 866 Sequence conflict
    8 894 894 Sequence conflict
    8 895 895 Sequence conflict
    8 977 977 Sequence conflict
    8 1073 1073 Sequence conflict
    8 1276 1276 Sequence conflict
    8 1593 1593 Sequence conflict
    8 1626 1626 Sequence conflict
    8 1634 1634 Sequence conflict
    8 1648 1650 Sequence conflict
    8 1725 1725 Sequence conflict
    10 1826 1826 Sequence conflict
    11 1867 1867 Sequence conflict
    15 2078 2078 Sequence conflict
    21 2324 2324 Sequence conflict
    23 2423 2423 Sequence conflict
    24 2458 2458 Sequence conflict
    24 2539 2539 Sequence conflict
    24 2565 2565 Sequence conflict
    24 2577 2577 Sequence conflict
  • Overview of mutations

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