Variant position: 361 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 616 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 FDDIAGQDLAKQALQEIVIL PSLRPELFTGLRAPARGLLLF
Mouse FDDIAGQELAKQALQEIVIL PSLRPELFTGLRAPARGLLLF
Rat FDDIAGQELAKQALQEIVIL PSLRPELFTGLRAPARGLLLF
Pig FDDIAGQELAKQALQEIVIL PSLRPELFTGLRAPARGLLLF
Bovine FDDIAGQELAKQALQEIVIL PSLRPELFTGLRAPARGLLLF
Chicken FDDIAGQELAKQALQEIVIL PSLRPELFTGLRAPARGLLLF
Xenopus laevis FADIAGQDLAKQALQEIVIL PSIRPELFTGLRAPARGLLLF
Xenopus tropicalis FADIAGQDLAKQALQEIVIL PSIRPELFTGLRAPARGLLLF
Zebrafish FDDIAGQDLAKQALQEIVIL PALRPELFTGLRAPARGLLLF
Caenorhabditis elegans MDDVAGCHSAKAALEEAVIL PALNPNLFKGLRQPVKGILLF
Drosophila WTDIAGQDVAKQALQEMVIL PSVRPELFTGLRAPAKGLLLF
Slime mold WDDVVGLDKVKQSLMESVIL PNLRPDVFTGLRAPPKGLLLF
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.
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.
Chinnery P.F.; Keers S.M.; Holden M.J.; Ramesh V.; Dalton A.;
Cited for: VARIANT SPG4 LEU-361; VARIANT LEU-44;
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