• BSCL2Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
  • Detail information

    Gene Symbol BSCL2
    Full name Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
    Synonym GNG3LG, HMN5, MGC4694, SPG17
    Genome position chromosome: 11; Location: 11q12-q13.5
    62474818 .. 62457746 (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. : Q96G97

    mRNA : BC009866.2
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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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 1 400 Chain
    1, 2 28 48 Transmembrane region
    5, 6 243 263 Transmembrane region
    2 88 88 Glycosylation site
    5 242 242 Glycosylation site
    5, 6 225 287 Splice variant
    6, 7, 8, 9, 10 288 400 Splice variant
    7 294 295 Splice variant
    2 88 88 Sequence variant
    2 90 90 Sequence variant
    5 212 212 Sequence variant
  • Overview of mutations

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