Variant position: 579 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 GPIRELKPEQVKNMSASEMR NIRLSDFTESLKKIKRSVSPQ
Mouse GPIRELKPEQVKNMSASEMR NIRLSDFTESLKKIKRSVSPQ
Rat GPIRELKPEQVKNMSASEMR NIRLSDFTESLKKIKRSVSPQ
Pig GPIRELKPEQVKNMSASEMR NIRLSDFTESLKKIKRSVSPQ
Bovine GPIRELKPEQVKNMSASEMR NIRLSDFTESLKKIKRSVSPQ
Chicken GPIRELKPEQVKNMSASEMR NIKLSDFTESLKKIKRSLSPQ
Xenopus laevis GPIRELKPEQVKNMAASEMR NMKYSDFLGSLKKIKCSVSHS
Xenopus tropicalis GPIRELKPEQVKNMAASEMR NIKYSDFLSSLKKIKCSVSPS
Zebrafish GPIRELKPEQVRNMSAHEMR DIRISDFLESLKRIKRSVSPQ
Caenorhabditis elegans VPIREIDRSKLSMTDGEKIR KIRASDFDTALRTIRPSTSQK
Drosophila EPIRELNVEQVKCLDISAMR AITEQDFHSSLKRIRRSVAPQ
Slime mold EPIRRLGIG-IKDLELNEIS LISFKDFANSLKQIRPSVTSQ
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
597 – 597 Phosphoserine
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;
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.