• SMN2survival of motor neuron 2, centromeric

  • Detail information

    Gene Symbol SMN2
    Full name survival of motor neuron 2, centromeric
    Synonym BCD541, C-BCD541, SMNC
    Genome position chromosome: 5; Location: 5q13
    69345349 .. 69373418 (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_059107.1

    mRNA : NM_017411.2

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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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

    show 1g5v.pdb

  • Structure information

    Exon Start AA End AA Structure
    1, 2, 3, 4, 5, 6 1 294 Chain
    2, 3, 4 91 151 Domain
    1 13 44 Region of interest
    5, 6 240 267 Region of interest
    6 279 294 Region of interest
    4 195 203 Compositionally biased region
    5 217 226 Compositionally biased region
    5 244 248 Compositionally biased region
    1 4 4 Modified residue
    1 5 5 Modified residue
    1 8 8 Modified residue
    1 28 28 Modified residue
    1 31 31 Modified residue
    4, 5 210 241 Splice variant
    6 279 282 Splice variant
    6 283 294 Splice variant
    1 2 2 Sequence variant
    1 30 30 Sequence variant
    1 44 44 Sequence variant
    2 95 95 Sequence variant
    3 111 111 Sequence variant
    3 116 116 Sequence variant
    3 136 136 Sequence variant
    5 245 245 Sequence variant
    5 262 262 Sequence variant
    5 262 262 Sequence variant
    6 272 272 Sequence variant
    6 274 274 Sequence variant
    6 275 275 Sequence variant
    6 279 279 Sequence variant
    6 279 279 Sequence variant
    2 97 101 Strand
    2 103 105 Turn
    3 108 117 Strand
    3 118 121 Turn
    3 122 127 Strand
    3 128 131 Turn
    3 132 137 Strand
    3 138 140 Helix

  • Overview of mutations

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