• L1CAML1 cell adhesion molecule
  • Detail information

    Gene Symbol L1CAM
    Full name L1 cell adhesion molecule
    Synonym CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAML1, S10, SPG1
    Genome position chromosome: X; Location: Xq28
    153141310 .. 153127386 (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_000416.1

    mRNA : NM_000425.2
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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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 1 19 Signal peptide
    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 20 1257 Chain
    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 20 1120 Topological domain
    25 1121 1143 Transmembrane region
    25, 26, 27, 28 1144 1257 Topological domain
    2, 3, 4 35 125 Domain
    4, 5, 6 139 226 Domain
    7, 8 240 328 Domain
    8, 9, 10 333 420 Domain
    10, 11, 12 425 507 Domain
    12, 13, 14 518 607 Domain
    14, 15, 16 612 707 Domain
    16, 17, 18 714 807 Domain
    18, 19, 20 812 913 Domain
    20, 21, 22 914 1011 Domain
    22, 23, 24 1016 1108 Domain
    13 554 556 Short sequence motif
    26 1163 1163 Modified residue
    28 1190 1190 Modified residue
    28 1191 1191 Modified residue
    28 1194 1194 Modified residue
    28 1247 1247 Modified residue
    28 1248 1248 Modified residue
    4 100 100 Glycosylation site
    6 203 203 Glycosylation site
    7 247 247 Glycosylation site
    8 294 294 Glycosylation site
    11 433 433 Glycosylation site
    12 479 479 Glycosylation site
    12 490 490 Glycosylation site
    12 505 505 Glycosylation site
    14 588 588 Glycosylation site
    16 671 671 Glycosylation site
    17 726 726 Glycosylation site
    18 777 777 Glycosylation site
    19 825 825 Glycosylation site
    19 849 849 Glycosylation site
    20 876 876 Glycosylation site
    22 979 979 Glycosylation site
    22 1022 1022 Glycosylation site
    23 1030 1030 Glycosylation site
    24 1071 1071 Glycosylation site
    24 1105 1105 Glycosylation site
    3, 4 57 114 Disulfide bond
    5, 6 158 209 Disulfide bond
    7, 8 264 312 Disulfide bond
    9, 10 354 404 Disulfide bond
    11, 12 448 497 Disulfide bond
    13, 14 539 591 Disulfide bond
    26 1177 1180 Splice variant
    1 9 9 Sequence variant
    1 30 30 Sequence variant
    4 121 121 Sequence variant
    5 179 179 Sequence variant
    6 184 184 Sequence variant
    6 184 184 Sequence variant
    6 194 194 Sequence variant
    6 202 202 Sequence variant
    6 210 210 Sequence variant
    6 219 219 Sequence variant
    7 240 240 Sequence variant
    7 264 264 Sequence variant
    7 268 268 Sequence variant
    8 309 309 Sequence variant
    8 335 335 Sequence variant
    8 335 335 Sequence variant
    9 370 370 Sequence variant
    10 386 386 Sequence variant
    10 408 408 Sequence variant
    10 415 415 Sequence variant
    10 421 421 Sequence variant
    10 426 426 Sequence variant
    11 439 443 Sequence variant
    11 452 452 Sequence variant
    12 473 473 Sequence variant
    12 482 482 Sequence variant
    12 497 497 Sequence variant
    13 526 526 Sequence variant
    13 542 542 Sequence variant
    14 598 598 Sequence variant
    15 632 632 Sequence variant
    16 655 655 Sequence variant
    16 674 674 Sequence variant
    16 691 691 Sequence variant
    16 691 691 Sequence variant
    16 698 698 Sequence variant
    17 739 739 Sequence variant
    17 741 741 Sequence variant
    18 751 751 Sequence variant
    18 752 752 Sequence variant
    18 768 768 Sequence variant
    18 768 768 Sequence variant
    18 770 770 Sequence variant
    18 784 784 Sequence variant
    21 935 935 Sequence variant
    21 936 948 Sequence variant
    21 941 941 Sequence variant
    24 1070 1070 Sequence variant
    28 1194 1194 Sequence variant
    28 1224 1224 Sequence variant
    28 1239 1239 Sequence variant
    1 4 4 Sequence conflict
    6 216 216 Sequence conflict
    7 250 250 Sequence conflict
    8 276 277 Sequence conflict
    9 357 357 Sequence conflict
    15 626 626 Sequence conflict
    21 936 936 Sequence conflict
    25 1116 1117 Sequence conflict
  • Overview of mutations

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