Variant position: 385 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 493 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KTLEKPDLGFLSPQVFVYVV HAAVLLLFGGLCMHVQVLTRF
Mouse ENPEKPHRGFLSPKVFVYLV HAAALLVFGGLCMHVQVLTRF
Rat ESLEKPHPGFLSAKVFVYLV HAAALLAFGGLCMHVQVLTRL
Drosophila KELIRDH------TTFPFVL HAAILTLVCTVYVHIQVSTRL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 493 GPI mannosyltransferase 2
379 – 399 Helical
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Krawitz P.M.; Schweiger M.R.; Rodelsperger C.; Marcelis C.; Kolsch U.; Meisel C.; Stephani F.; Kinoshita T.; Murakami Y.; Bauer S.; Isau M.; Fischer A.; Dahl A.; Kerick M.; Hecht J.; Kohler S.; Jager M.; Grunhagen J.; de Condor B.J.; Doelken S.; Brunner H.G.; Meinecke P.; Passarge E.; Thompson M.D.; Cole D.E.; Horn D.; Roscioli T.; Mundlos S.; Robinson P.N.;
Nat. Genet. 42:827-829(2010)
Cited for: VARIANTS HPMRS1 LYS-256; VAL-341; GLU-341 AND PRO-385;
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