Variant position: 377 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 IVILPSLRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Mouse IVILPSLRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Rat IVILPSLRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Pig IVILPSLRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Bovine IVILPSLRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Chicken IVILPSLRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Xenopus laevis IVILPSIRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Xenopus tropicalis IVILPSIRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAA
Zebrafish IVILPALRPELFTGLRAPAR GLLLFGPPGNGKTMLAKAVAM
Caenorhabditis elegans AVILPALNPNLFKGLRQPVK GILLFGPPGNGKTLLAKAVAG
Drosophila MVILPSVRPELFTGLRAPAK GLLLFGPPGNGKTLLARAVAT
Slime mold SVILPNLRPDVFTGLRAPPK GLLLFGPPGNGKTMIAKAVAY
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
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;
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.