Variant position: 370 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 AKQALQEIVILPSLRPELFT GLRAPARGLLLFGPPGNGKTM
Mouse AKQALQEIVILPSLRPELFT GLRAPARGLLLFGPPGNGKTM
Rat AKQALQEIVILPSLRPELFT GLRAPARGLLLFGPPGNGKTM
Pig AKQALQEIVILPSLRPELFT GLRAPARGLLLFGPPGNGKTM
Bovine AKQALQEIVILPSLRPELFT GLRAPARGLLLFGPPGNGKTM
Chicken AKQALQEIVILPSLRPELFT GLRAPARGLLLFGPPGNGKTM
Xenopus laevis AKQALQEIVILPSIRPELFT GLRAPARGLLLFGPPGNGKTM
Xenopus tropicalis AKQALQEIVILPSIRPELFT GLRAPARGLLLFGPPGNGKTM
Zebrafish AKQALQEIVILPALRPELFT GLRAPARGLLLFGPPGNGKTM
Caenorhabditis elegans AKAALEEAVILPALNPNLFK GLRQPVKGILLFGPPGNGKTL
Drosophila AKQALQEMVILPSVRPELFT GLRAPAKGLLLFGPPGNGKTL
Slime mold VKQSLMESVILPNLRPDVFT GLRAPPKGLLLFGPPGNGKTM
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.
370 – 372
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Errico A.; Ballabio A.; Rugarli E.I.;
Hum. Mol. Genet. 11:153-163(2002)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPG4 ARG-370; CYS-381; LYS-386; ARG-388; VAL-426; TYR-448; LEU-460; CYS-499 AND VAL-556;
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N.; Mavel D.; Byrne P.; Davoine C.-S.; Cruaud C.; Bonsch D.; Samson D.; Coutinho P.; Hutchinson M.; McMonagle P.; Burgunder J.-M.; Tartaglione A.; Heinzlef O.; Feki I.; Deufel T.; Parfrey N.; Brice A.; Fontaine B.; Prud'homme J.-F.; Weissenbach J.; Duerr A.; Hazan J.;
Hum. Mol. Genet. 9:637-644(2000)
Cited for: VARIANTS SPG4 CYS-362; ARG-370; CYS-381; LYS-386; ARG-388; VAL-426; TYR-448; LEU-460; CYS-499; ASN-555 AND VAL-556;
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.