Variant position: 406 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 NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Mouse NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Rat NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Pig NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Bovine NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Chicken NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Xenopus laevis NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Xenopus tropicalis NGKTMLAKAVAAESNATFFN ISAASLTSKYVGEGEKLVRAL
Zebrafish NGKTMLAKAVAMESNATFFN ISAATLTSKYVGEGEKLVRAL
Caenorhabditis elegans NGKTLLAKAVAGESKQMFFN ISASSLTSKWVGDSEKTIRGL
Drosophila NGKTLLARAVATECSATFLN ISAASLTSKYVGDGEKLVRAL
Slime mold NGKTMIAKAVAYESKVTFFS ISSSSLTSKYVGDGEKLVRAL
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
388 – 388 K -> A. Abrogates ATPase activity and abolishes microtubule severing.
415 – 415 Y -> A. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.
402 – 406
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F.; Panzeri C.; Martinuzzi A.; Arnoldi A.; Redaelli F.; Tonelli A.; Baschirotto C.; Vazza G.; Mostacciuolo M.L.; Daga A.; Orso G.; Profice P.; Trabacca A.; D'Angelo M.G.; Comi G.P.; Galbiati S.; Lamperti C.; Bonato S.; Pandolfo M.; Meola G.; Musumeci O.; Toscano A.; Trevisan C.P.; Bresolin N.; Bassi M.T.;
Arch. Neurol. 63:750-755(2006)
Cited for: VARIANTS SPG4 VAL-195; VAL-406; GLY-493; HIS-499; TRP-503 AND CYS-607;
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