Variant position: 562 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 DGYSGSDLTALAKDAALGPI RELKPEQVKNMSASEMRNIRL
Mouse DGYSGSDLTALAKDAALGPI RELKPEQVKNMSASEMRNIRL
Rat DGYSGSDLTALAKDAALGPI RELKPEQVKNMSASEMRNIRL
Pig DGYSGSDLTALAKDAALGPI RELKPEQVKNMSASEMRNIRL
Bovine NGYSGSDLTALAKDAALGPI RELKPEQVKNMSASEMRNIRL
Chicken DGYSGSDLTALAKDAALGPI RELKPEQVKNMSASEMRNIKL
Xenopus laevis EGYSGSDITALAKDAALGPI RELKPEQVKNMAASEMRNMKY
Xenopus tropicalis EGYSGSDITALAKDAALGPI RELKPEQVKNMAASEMRNIKY
Zebrafish DGYSGSDLTSLAKDAALGPI RELKPEQVRNMSAHEMRDIRI
Caenorhabditis elegans SGFSNSDLVALCKEAAMVPI REIDRSKLSMTDGEKIRKIRA
Drosophila DGYSGSDLTALAKDAALEPI RELNVEQVKCLDISAMRAITE
Slime mold QGYSGFDLAALCKDAAYEPI RRLGIG-IKDLELNEISLISF
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.
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
Svenson I.K.; Ashley-Koch A.E.; Gaskell P.C.; Riney T.J.; Cumming W.J.K.; Kingston H.M.; Hogan E.L.; Boustany R.-M.N.; Vance J.M.; Nance M.A.; Pericak-Vance M.A.; Marchuk D.A.;
Am. J. Hum. Genet. 68:1077-1085(2001)
Cited for: VARIANTS SPG4 CYS-499 AND GLY-562;
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
Svenson I.K.; Kloos M.T.; Gaskell P.C.; Nance M.A.; Garbern J.Y.; Hisanaga S.; Pericak-Vance M.A.; Ashley-Koch A.E.; Marchuk D.A.;
Cited for: VARIANTS SPG4 VAL-470 AND GLY-562; VARIANTS LEU-44 AND GLN-45;
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.