Variant position: 584 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 LKPEQVKNMSASEMRNIRLS DFTESLKKIKRSVSPQTLEAY
Mouse LKPEQVKNMSASEMRNIRLS DFTESLKKIKRSVSPQTLEAY
Rat LKPEQVKNMSASEMRNIRLS DFTESLKKIKRSVSPQTLEAY
Pig LKPEQVKNMSASEMRNIRLS DFTESLKKIKRSVSPQTLEAY
Bovine LKPEQVKNMSASEMRNIRLS DFTESLKKIKRSVSPQTLEAY
Chicken LKPEQVKNMSASEMRNIKLS DFTESLKKIKRSLSPQTLEAY
Xenopus laevis LKPEQVKNMAASEMRNMKYS DFLGSLKKIKCSVSHSTLESY
Xenopus tropicalis LKPEQVKNMAASEMRNIKYS DFLSSLKKIKCSVSPSTLESY
Zebrafish LKPEQVRNMSAHEMRDIRIS DFLESLKRIKRSVSPQTLDQY
Caenorhabditis elegans IDRSKLSMTDGEKIRKIRAS DFDTALRTIRPSTSQKIMSKL
Drosophila LNVEQVKCLDISAMRAITEQ DFHSSLKRIRRSVAPQSLNSY
Slime mold LGIG-IKDLELNEISLISFK DFANSLKQIRPSVTSQSLKSF
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.
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.
Lindsey J.C.; Lusher M.E.; McDermott C.J.; White K.D.; Reid E.; Rubinsztein D.C.; Bashir R.; Hazan J.; Shaw P.J.; Bushby K.M.D.;
J. Med. Genet. 37:759-765(2000)
Cited for: VARIANTS SPG4 GLY-424 AND HIS-584; 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.