• SPASTspastin

  • Detail information

    Gene Symbol SPAST
    Full name spastin
    Synonym ADPSP, FSP2, KIAA1083, SPG4
    Genome position chromosome: 2; Location: 2p24-p21
    32288679 .. 32382705 (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_055761.2

    mRNA : NM_014946.3

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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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 1 616 Chain
    1, 2, 3 116 194 Domain
    8 382 389 Nucleotide phosphate-binding region
    1, 2, 3 80 196 Region of interest
    1 4 11 Short sequence motif
    1 57 66 Short sequence motif
    6 309 312 Short sequence motif
    4 197 228 Splice variant
    1 44 44 Sequence variant
    1 45 45 Sequence variant
    3 195 195 Sequence variant
    7 344 344 Sequence variant
    7 347 347 Sequence variant
    7 361 361 Sequence variant
    7 362 362 Sequence variant
    8 370 370 Sequence variant
    8 378 378 Sequence variant
    8 381 381 Sequence variant
    8 386 386 Sequence variant
    8 386 386 Sequence variant
    8 388 388 Sequence variant
    8 390 390 Sequence variant
    9 399 399 Sequence variant
    9 404 404 Sequence variant
    9 406 406 Sequence variant
    9 407 407 Sequence variant
    10 423 423 Sequence variant
    10 424 424 Sequence variant
    10 426 426 Sequence variant
    10 435 435 Sequence variant
    10 436 436 Sequence variant
    10 441 441 Sequence variant
    11 448 448 Sequence variant
    11 459 459 Sequence variant
    11 460 460 Sequence variant
    11 460 460 Sequence variant
    11 470 470 Sequence variant
    12 485 485 Sequence variant
    12 489 489 Sequence variant
    12 493 493 Sequence variant
    13 499 499 Sequence variant
    13 499 499 Sequence variant
    13 503 503 Sequence variant
    13 503 503 Sequence variant
    13 512 512 Sequence variant
    14 515 515 Sequence variant
    14 534 534 Sequence variant
    15 551 551 Sequence variant
    15 555 555 Sequence variant
    15 556 556 Sequence variant
    15 559 559 Sequence variant
    15 562 562 Sequence variant
    15 562 562 Sequence variant
    17 584 584 Sequence variant
    17 607 607 Sequence variant
    17 614 614 Sequence variant
    17 615 615 Sequence variant

  • Overview of mutations

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