• SPG7spastic paraplegia 7 (pure and complicated autosomal recessive)
  • Detail information

    Gene Symbol SPG7
    Full name spastic paraplegia 7 (pure and complicated autosomal recessive)
    Synonym CAR, CMAR, FLJ37308, MGC126331, MGC126332, PGN, SPG5C
    Genome position chromosome: 16; Location: 16q24.3
    89574804 .. 89624173 (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_003110.1

    mRNA : NM_003119.2
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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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 1 795 Chain
    4 145 165 Transmembrane region
    5, 6 249 269 Transmembrane region
    8 349 357 Nucleotide phosphate-binding region
    13 575 575 Active site
    13 574 574 Metal ion-binding site
    13 578 578 Metal ion-binding site
    11 492 492 Binding site
    11 505 505 Modified residue
    9, 10 443 489 Splice variant
    10, 11, 12, 13, 14, 15, 16, 17 490 795 Splice variant
    11 503 503 Sequence variant
    15 688 688 Sequence variant
    1 12 12 Sequence conflict
    8 376 376 Sequence conflict
  • Overview of mutations

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