Sequence information
Variant position: 407 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:
GKTMLAKAVAAESNATFFNI
S AASLTSKYVGEGEKLVRALF
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 GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Mouse GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Rat GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Pig GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Bovine GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Chicken GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Xenopus laevis GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Xenopus tropicalis GKTMLAKAVAAESNATFFNIS AASLTSKYVGEGEKLVRALF
Zebrafish GKTMLAKAVAMESNATFFNIS AATLTSKYVGEGEKLVRALF
Caenorhabditis elegans GKTLLAKAVAGESKQMFFNIS ASSLTSKWVGDSEKTIRGLF
Drosophila GKTLLARAVATECSATFLNIS AASLTSKYVGDGEKLVRALF
Slime mold GKTMIAKAVAYESKVTFFSIS SSSLTSKYVGDGEKLVRALF
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
Chain
1 – 616
Spastin
Topological domain
78 – 616
Cytoplasmic
Region
228 – 616
Sufficient for microtubule severing
Mutagenesis
388 – 388
K -> A. Abrogates ATPase activity and abolishes microtubule severing.
Mutagenesis
415 – 415
Y -> A. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.
Literature citations
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
Sauter S.M.; Miterski B.; Klimpe S.; Boensch D.; Schoels L.; Visbeck A.; Papke T.; Hopf H.C.; Engel W.; Deufel T.; Epplen J.T.; Neesen J.;
Hum. Mutat. 20:127-132(2002)
Cited for: VARIANTS SPG4 ARG-407; TYR-551 AND ILE-615;
Disclaimer:
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.