Sequence information
Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 795 The length of the canonical sequence.
Location on the sequence:
LAGMTGREGGFSAFNQLKMA
R FTIVDGKMGKGVSFKDVAGM
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 LAGMTGREGGFSAFNQLKMAR FTIVDGKMGKGVSFKDVAGM
Mouse LAGMTGREGGFSAFNQLKMAR FTIVDGKTGKGVSFQDVAGM
Rat LAGMTGREGGFSAFNQLKMAR FTIVDGKTGKGVSFQDVAGM
Slime mold TSASTTTSGGSATTTTGE--- -PITDGSNG-----------
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
Chain
106 – 795
Paraplegin
Topological domain
270 – 795
Mitochondrial matrix
Binding site
312 – 312
ATP; via amide nitrogen and carbonyl oxygen
Literature citations
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Elleuch N.; Depienne C.; Benomar A.; Hernandez A.M.; Ferrer X.; Fontaine B.; Grid D.; Tallaksen C.M.E.; Zemmouri R.; Stevanin G.; Durr A.; Brice A.;
Neurology 66:654-659(2006)
Cited for: VARIANTS SPG7 VAL-510 AND VAL-581 DEL; VARIANTS THR-2; GLN-82 DEL; PRO-284; HIS-294; GLN-486 ALA-503; LEU-545; THR-603; LEU-635; THR-645; HIS-650; GLN-688 AND ASP-730;
Disclaimer:
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.