Variant position: 413 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 KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFAVAREL
Mouse KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFAVAREL
Rat KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFAVAREL
Pig KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFAVAREL
Bovine KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFAVAREL
Chicken KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFAVAREL
Xenopus laevis KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFSVAREL
Xenopus tropicalis KAVAAESNATFFNISAASLT SKYVGEGEKLVRALFSVAREL
Zebrafish KAVAMESNATFFNISAATLT SKYVGEGEKLVRALFAVAREL
Caenorhabditis elegans KAVAGESKQMFFNISASSLT SKWVGDSEKTIRGLFQIARNA
Drosophila RAVATECSATFLNISAASLT SKYVGDGEKLVRALFAVARHM
Slime mold KAVAYESKVTFFSISSSSLT SKYVGDGEKLVRALFAVATHF
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
415 – 415 Y -> A. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
Battini R.; Fogli A.; Borghetti D.; Michelucci A.; Perazza S.; Baldinotti F.; Conidi M.E.; Ferreri M.I.; Simi P.; Cioni G.;
Eur. J. Neurol. 18:150-157(2011)
Cited for: VARIANTS SPG4 LEU-413 AND LYS-454;
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.