Variant position: 503 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:
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 QERREIFEQHLKSLKLTQSS TFYSQRLAELTPGFSGADIAN
Mouse QERREIFEQHLKGLKLTQPS SFYSQRLAELTPGFSGADIAN
Rat QERREIFEQHLKGLKLTQPS SFYSQRLAELTPGFSGADIAN
Slime mold ---QDAFDS------WTYDN IIYTVYQVNLT------NIGT
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 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.;
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;
Functional evaluation of paraplegin mutations by a yeast complementation assay.
Bonn F.; Pantakani K.; Shoukier M.; Langer T.; Mannan A.U.;
Hum. Mutat. 31:617-621(2010)
Cited for: VARIANTS SPG7 SER-349; VAL-510 AND CYS-583; VARIANTS ALA-503 AND GLN-688; CHARACTERIZATION OF VARIANTS SPG7 SER-349; VAL-510 AND CYS-583; CHARACTERIZATION OF VARIANTS ALA-503 AND GLN-688;
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