Variant position: 364 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 IAGQDLAKQALQEIVILPSL RPELFTGLRAPARGLLLFGPP
Mouse IAGQELAKQALQEIVILPSL RPELFTGLRAPARGLLLFGPP
Rat IAGQELAKQALQEIVILPSL RPELFTGLRAPARGLLLFGPP
Pig IAGQELAKQALQEIVILPSL RPELFTGLRAPARGLLLFGPP
Bovine IAGQELAKQALQEIVILPSL RPELFTGLRAPARGLLLFGPP
Chicken IAGQELAKQALQEIVILPSL RPELFTGLRAPARGLLLFGPP
Xenopus laevis IAGQDLAKQALQEIVILPSI RPELFTGLRAPARGLLLFGPP
Xenopus tropicalis IAGQDLAKQALQEIVILPSI RPELFTGLRAPARGLLLFGPP
Zebrafish IAGQDLAKQALQEIVILPAL RPELFTGLRAPARGLLLFGPP
Caenorhabditis elegans VAGCHSAKAALEEAVILPAL NPNLFKGLRQPVKGILLFGPP
Drosophila IAGQDVAKQALQEMVILPSV RPELFTGLRAPAKGLLLFGPP
Slime mold VVGLDKVKQSLMESVILPNL RPDVFTGLRAPPKGLLLFGPP
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 – 616 Spastin
78 – 616 Cytoplasmic
228 – 616 Sufficient for microtubule severing
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
Erichsen A.K.; Inderhaug E.; Mattingsdal M.; Eiklid K.; Tallaksen C.M.;
Eur. J. Neurol. 14:809-814(2007)
Cited for: VARIANTS SPG4 THR-364; HIS-380 AND HIS-579; VARIANT LEU-44;
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