Variant position: 368 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 DLAKQALQEIVILPSLRPEL FTGLRAPARGLLLFGPPGNGK
Mouse ELAKQALQEIVILPSLRPEL FTGLRAPARGLLLFGPPGNGK
Rat ELAKQALQEIVILPSLRPEL FTGLRAPARGLLLFGPPGNGK
Pig ELAKQALQEIVILPSLRPEL FTGLRAPARGLLLFGPPGNGK
Bovine ELAKQALQEIVILPSLRPEL FTGLRAPARGLLLFGPPGNGK
Chicken ELAKQALQEIVILPSLRPEL FTGLRAPARGLLLFGPPGNGK
Xenopus laevis DLAKQALQEIVILPSIRPEL FTGLRAPARGLLLFGPPGNGK
Xenopus tropicalis DLAKQALQEIVILPSIRPEL FTGLRAPARGLLLFGPPGNGK
Zebrafish DLAKQALQEIVILPALRPEL FTGLRAPARGLLLFGPPGNGK
Caenorhabditis elegans HSAKAALEEAVILPALNPNL FKGLRQPVKGILLFGPPGNGK
Drosophila DVAKQALQEMVILPSVRPEL FTGLRAPAKGLLLFGPPGNGK
Slime mold DKVKQSLMESVILPNLRPDV FTGLRAPPKGLLLFGPPGNGK
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.
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.
Proukakis C.; Moore D.; Labrum R.; Wood N.W.; Houlden H.;
J. Neurol. Sci. 306:62-65(2011)
Cited for: VARIANTS SPG4 MET-364; LEU-368; GLU-377 AND SER-450;
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V.; Tucci A.; Lynch D.S.; Polke J.M.; Santos L.; Jonvik H.; Groppa S.; Wood N.W.; Houlden H.;
J. Neurol. Neurosurg. Psych. 88:681-687(2017)
Cited for: VARIANTS SPG4 LYS-328; LYS-366; LEU-368; VAL-368; THR-372; TYR-386; THR-390; ALA-418; TYR-470; THR-485; MET-498 AND 546-GLY--VAL-616 DEL;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.