• SPG3Aspastic paraplegia 3A (autosomal dominant)

  • Detail information

    Gene Symbol SPG3A
    Full name spastic paraplegia 3A (autosomal dominant)
    Synonym AD-FSP, ATL1, FSP1, GBP3, SPG3, atlastin1
    Genome position chromosome: 14; Location: 14q22.1
    51026749 .. 51099390 (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_056999.2

    mRNA : NM_015915.3

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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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 1 558 Chain
    1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 1 449 Topological domain
    12 450 470 Transmembrane region
    12 471 471 Topological domain
    12 472 492 Transmembrane region
    12, 13, 14 493 558 Topological domain
    2 74 81 Nucleotide phosphate-binding region
    4 146 150 Nucleotide phosphate-binding region
    1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12 1 447 Region of interest
    12, 13, 14 448 558 Region of interest
    12 412 439 Coiled-coil region
    2 18 18 Modified residue
    2 22 22 Modified residue
    2 23 23 Modified residue
    4 161 161 Sequence variant
    7 217 217 Sequence variant
    7 239 239 Sequence variant
    8 247 247 Sequence variant
    8 258 258 Sequence variant
    8 259 259 Sequence variant
    2 43 43 Sequence conflict
    6 193 193 Sequence conflict

  • Overview of mutations

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