Variant position: 380 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 LPSLRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Mouse LPSLRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Rat LPSLRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Pig LPSLRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Bovine LPSLRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Chicken LPSLRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Xenopus laevis LPSIRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Xenopus tropicalis LPSIRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAAESN
Zebrafish LPALRPELFTGLRAPARGLL LFGPPGNGKTMLAKAVAMESN
Caenorhabditis elegans LPALNPNLFKGLRQPVKGIL LFGPPGNGKTLLAKAVAGESK
Drosophila LPSVRPELFTGLRAPAKGLL LFGPPGNGKTLLARAVATECS
Slime mold LPNLRPDVFTGLRAPPKGLL LFGPPGNGKTMIAKAVAYESK
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.
376 – 383
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;
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V.; Sanchez-Ferrero E.; Beetz C.; Diaz M.; Alonso B.; Corao A.I.; Gamez J.; Esteban J.; Gonzalo J.F.; Pascual-Pascual S.I.; Lopez de Munain A.; Moris G.; Ribacoba R.; Marquez C.; Rosell J.; Marin R.; Garcia-Barcina M.J.; Del Castillo E.; Benito C.; Coto E.;
BMC Neurol. 10:89-89(2010)
Cited for: VARIANTS SPG4 THR-287 DEL; LEU-293; LEU-328; ARG-378; HIS-380; PRO-391; 393-LYS--ALA-396 DEL; THR-409; ARG-410; PRO-436; ASN-441; SER-460; ALA-463; PHE-492; GLY-498; ARG-503 INS; GLY-514 AND THR-580;
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.