Variant position: 559 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 RMTDGYSGSDLTALAKDAAL GPIRELKPEQVKNMSASEMRN
Mouse RMTDGYSGSDLTALAKDAAL GPIRELKPEQVKNMSASEMRN
Rat RMTDGYSGSDLTALAKDAAL GPIRELKPEQVKNMSASEMRN
Pig RLTDGYSGSDLTALAKDAAL GPIRELKPEQVKNMSASEMRN
Bovine RMTNGYSGSDLTALAKDAAL GPIRELKPEQVKNMSASEMRN
Chicken RMTDGYSGSDLTALAKDAAL GPIRELKPEQVKNMSASEMRN
Xenopus laevis RLTEGYSGSDITALAKDAAL GPIRELKPEQVKNMAASEMRN
Xenopus tropicalis RLTEGYSGSDITALAKDAAL GPIRELKPEQVKNMAASEMRN
Zebrafish RLTDGYSGSDLTSLAKDAAL GPIRELKPEQVRNMSAHEMRD
Caenorhabditis elegans SNTSGFSNSDLVALCKEAAM VPIREIDRSKLSMTDGEKIRK
Drosophila KITDGYSGSDLTALAKDAAL EPIRELNVEQVKCLDISAMRA
Slime mold EVTQGYSGFDLAALCKDAAY EPIRRLGIG-IKDLELNEISL
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.
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.
Hentati A.; Deng H.-X.; Zhai H.; Chen W.; Yang Y.; Hung W.-Y.; Azim A.C.; Bohlega S.; Tandan R.; Warner C.; Laing N.G.; Cambi F.; Mitsumoto H.; Roos R.P.; Boustany R.-M.N.; Ben-Hamida M.; Hentati F.; Siddique T.;
Cited for: VARIANTS SPG4 PHE-436 AND ASP-559;
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
Meijer I.A.; Hand C.K.; Cossette P.; Figlewicz D.A.; Rouleau G.A.;
Arch. Neurol. 59:281-286(2002)
Cited for: VARIANTS SPG4 LEU-399; VAL-426; LEU-489; ASP-559 AND GLN-562;
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.