Variant position: 555 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 AQLARMTDGYSGSDLTALAK DAALGPIRELKPEQVKNMSAS
Mouse AQLARMTDGYSGSDLTALAK DAALGPIRELKPEQVKNMSAS
Rat AQLARMTDGYSGSDLTALAK DAALGPIRELKPEQVKNMSAS
Pig AQLARLTDGYSGSDLTALAK DAALGPIRELKPEQVKNMSAS
Bovine AQLARMTNGYSGSDLTALAK DAALGPIRELKPEQVKNMSAS
Chicken AQLARMTDGYSGSDLTALAK DAALGPIRELKPEQVKNMSAS
Xenopus laevis TQLSRLTEGYSGSDITALAK DAALGPIRELKPEQVKNMAAS
Xenopus tropicalis TQLSRLTEGYSGSDITALAK DAALGPIRELKPEQVKNMAAS
Zebrafish SQLARLTDGYSGSDLTSLAK DAALGPIRELKPEQVRNMSAH
Caenorhabditis elegans RYIASNTSGFSNSDLVALCK EAAMVPIREIDRSKLSMTDGE
Drosophila RRLAKITDGYSGSDLTALAK DAALEPIRELNVEQVKCLDIS
Slime mold NSLAEVTQGYSGFDLAALCK DAAYEPIRRLGIG-IKDLELN
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.
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N.; Mavel D.; Byrne P.; Davoine C.-S.; Cruaud C.; Bonsch D.; Samson D.; Coutinho P.; Hutchinson M.; McMonagle P.; Burgunder J.-M.; Tartaglione A.; Heinzlef O.; Feki I.; Deufel T.; Parfrey N.; Brice A.; Fontaine B.; Prud'homme J.-F.; Weissenbach J.; Duerr A.; Hazan J.;
Hum. Mol. Genet. 9:637-644(2000)
Cited for: VARIANTS SPG4 CYS-362; ARG-370; CYS-381; LYS-386; ARG-388; VAL-426; TYR-448; LEU-460; CYS-499; ASN-555 AND VAL-556;
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.