• HFEhemochromatosis
  • Detail information

    Gene Symbol HFE
    Full name hemochromatosis
    Synonym HFE1, HH, HLA-H, MGC103790, dJ221C16.10.1
    Genome position chromosome: 6; Location: 6p21.3
    26087447 .. 26097058 (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. : Q30201

    mRNA : U60319.1
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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    Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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 22 Signal peptide
    1, 2, 3, 4, 5, 6 23 348 Chain
    1, 2, 3, 4, 5 23 306 Topological domain
    5 307 330 Transmembrane region
    5, 6 331 348 Topological domain
    4 207 298 Domain
    1, 2 23 114 Region of interest
    3 115 205 Region of interest
    3, 4 206 297 Region of interest
    4, 5 298 306 Region of interest
    2 110 110 Glycosylation site
    3 130 130 Glycosylation site
    4 234 234 Glycosylation site
    3 124 187 Disulfide bond
    4 225 282 Disulfide bond
    1, 2 26 114 Splice variant
    1, 2 26 49 Splice variant
    2, 3 27 206 Splice variant
    2, 3, 4 114 219 Splice variant
    2, 3 114 205 Splice variant
    3 144 161 Splice variant
    3, 4, 5, 6 162 348 Splice variant
    4 207 220 Splice variant
    4 275 276 Splice variant
    4, 5, 6 277 348 Splice variant
    2 53 53 Sequence variant
    2 59 59 Sequence variant
    2 63 63 Sequence variant
    2 65 65 Sequence variant
    2 93 93 Sequence variant
    2 105 105 Sequence variant
    3 127 127 Sequence variant
    4 217 217 Sequence variant
    4 277 277 Sequence variant
    4 282 282 Sequence variant
    4 283 283 Sequence variant
    5 330 330 Sequence variant
    1 26 26 Sequence conflict
    4 230 230 Sequence conflict
    4 248 248 Sequence conflict
    4 256 256 Sequence conflict
    4 275 275 Sequence conflict
    5 311 311 Sequence conflict
    6 339 339 Sequence conflict
    2 28 38 Strand
    2 43 45 Strand
    2 48 53 Strand
    2 56 65 Strand
    2 68 70 Strand
    2 79 82 Turn
    2 83 107 Helix
    2 108 110 Turn
    2 112 114 Strand
    3 117 126 Strand
    3 132 140 Strand
    3 143 149 Strand
    3 150 152 Helix
    3 154 159 Strand
    3 160 162 Helix
    3 163 170 Helix
    3 174 184 Helix
    3 186 198 Helix
    3 199 201 Turn
    4 209 216 Strand
    4 221 233 Strand
    4 236 241 Strand
    4 248 250 Helix
    4 255 258 Strand
    4 264 272 Strand
    4 276 279 Helix
    4 280 285 Strand
    4 289 291 Strand
    4 293 296 Strand
  • Overview of mutations

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