Variant position: 390 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 GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Mouse GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Rat GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Pig GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Bovine GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Chicken GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Xenopus laevis GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Xenopus tropicalis GLRAPARGLLLFGPPGNGKT MLAKAVAAESNATFFNISAAS
Zebrafish GLRAPARGLLLFGPPGNGKT MLAKAVAMESNATFFNISAAT
Caenorhabditis elegans GLRQPVKGILLFGPPGNGKT LLAKAVAGESKQMFFNISASS
Drosophila GLRAPAKGLLLFGPPGNGKT LLARAVATECSATFLNISAAS
Slime mold GLRAPPKGLLLFGPPGNGKT MIAKAVAYESKVTFFSISSSS
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.
388 – 398
Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.
Tang B.; Zhao G.; Xia K.; Pan Q.; Luo W.; Shen L.; Long Z.; Dai H.; Zi X.; Jiang H.;
Arch. Neurol. 61:49-55(2004)
Cited for: VARIANTS SPG4 GLN-378; VAL-390 AND LEU-515 DEL;
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