• PLP1proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
  • Detail information

    Gene Symbol PLP1
    Full name proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
    Synonym MMPL, PLP, PLP/DM20, PMD, SPG2
    Genome position chromosome: X; Location: Xq22
    103031753 .. 103047547 (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_000524.3

    mRNA : NM_000533.3
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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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 1 1 Initiator methionine
    1, 2, 3, 4, 5, 6, 7 2 277 Chain
    1, 2 2 9 Topological domain
    2 10 36 Transmembrane region
    2 37 63 Topological domain
    2, 3 64 88 Transmembrane region
    3 89 151 Topological domain
    4 152 177 Transmembrane region
    4, 5, 6 178 233 Topological domain
    6, 7 234 260 Transmembrane region
    7 261 277 Topological domain
    2 6 6 Lipid moiety-binding region
    2 7 7 Lipid moiety-binding region
    2 10 10 Lipid moiety-binding region
    3 109 109 Lipid moiety-binding region
    3 139 139 Lipid moiety-binding region
    3 141 141 Lipid moiety-binding region
    4 199 199 Lipid moiety-binding region
    4, 5 184 228 Disulfide bond
    4, 5 201 220 Disulfide bond
    3 117 151 Splice variant
    2 15 15 Sequence variant
    2 31 31 Sequence variant
    2 32 32 Sequence variant
    2 32 32 Sequence variant
    2 35 35 Sequence variant
    2 39 39 Sequence variant
    2 43 43 Sequence variant
    2 46 46 Sequence variant
    2 46 46 Sequence variant
    2 51 51 Sequence variant
    2 60 60 Sequence variant
    3 74 74 Sequence variant
    3 116 116 Sequence variant
    3, 4 117 165 Sequence variant
    3 130 130 Sequence variant
    3 140 140 Sequence variant
    3 148 148 Sequence variant
    3 151 151 Sequence variant
    4 156 156 Sequence variant
    4 163 163 Sequence variant
    4 166 166 Sequence variant
    4 166 166 Sequence variant
    4 169 169 Sequence variant
    4 170 170 Sequence variant
    4 172 172 Sequence variant
    4 175 175 Sequence variant
    4 181 181 Sequence variant
    4 182 182 Sequence variant
    4 183 183 Sequence variant
    4 187 187 Sequence variant
    4 203 203 Sequence variant
    4 203 203 Sequence variant
    4 203 203 Sequence variant
    4 203 203 Sequence variant
    4 203 203 Sequence variant
    4 205 205 Sequence variant
    4 207 207 Sequence variant
    5 209 209 Sequence variant
    5 210 210 Sequence variant
    5 211 211 Sequence variant
    5 212 212 Sequence variant
    5 216 216 Sequence variant
    5 216 216 Sequence variant
    5 217 217 Sequence variant
    5 219 219 Sequence variant
    5 220 220 Sequence variant
    5 221 221 Sequence variant
    5 224 224 Sequence variant
    5 224 224 Sequence variant
    5 226 226 Sequence variant
    5 228 228 Sequence variant
    6 234 234 Sequence variant
    6 237 237 Sequence variant
    6 242 242 Sequence variant
    6 246 246 Sequence variant
    6 248 248 Sequence variant
    6 249 249 Sequence variant
    6 253 253 Sequence variant
    3 140 140 Sequence conflict
    4 185 185 Sequence conflict
    5 213 213 Sequence conflict
  • Overview of mutations

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