• ALS2amyotrophic lateral sclerosis 2 (juvenile)

  • Detail information

    Gene Symbol ALS2
    Full name amyotrophic lateral sclerosis 2 (juvenile)
    Synonym ALS2CR6, ALSJ, FLJ31851, IAHSP, KIAA1563, MGC87187, PLSJ
    Genome position chromosome: 2; Location: 2q33.1
    202645737 .. 202565276 (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_065970.2

    mRNA : NM_020919.2

  • Mutation Search

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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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, 25, 26, 27, 28, 29, 30, 31, 32, 33 1 1657 Chain
    2, 3 59 108 Repeat
    3 109 167 Repeat
    3 169 218 Repeat
    5, 6 525 576 Repeat
    6, 7, 8 578 627 Repeat
    9, 10, 11, 12, 13 690 885 Domain
    13, 14, 15, 16, 17 901 1007 Domain
    17, 18 1049 1071 Repeat
    18, 19 1072 1094 Repeat
    19, 20 1100 1122 Repeat
    20 1123 1145 Repeat
    20, 21 1151 1173 Repeat
    21 1175 1197 Repeat
    21, 22 1198 1220 Repeat
    22, 23 1221 1244 Repeat
    28, 29, 30, 31, 32, 33 1513 1657 Domain
    4 483 483 Modified residue
    25 1344 1344 Modified residue
    4 372 396 Splice variant
    4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33 397 1657 Splice variant
    11, 12 785 807 Splice variant
    12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33 808 1657 Splice variant
    3 94 94 Sequence variant
    3 102 102 Sequence variant
    3 159 159 Sequence variant
    3 368 368 Sequence variant
    23 1255 1255 Sequence variant
    26 1406 1406 Sequence variant
    3 69 69 Sequence conflict
    3 115 115 Sequence conflict

  • Overview of mutations

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