Variant position: 363 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 DIAGQDLAKQALQEIVILPS LRPELFTGLRAPARGLLLFGP
Mouse DIAGQELAKQALQEIVILPS LRPELFTGLRAPARGLLLFGP
Rat DIAGQELAKQALQEIVILPS LRPELFTGLRAPARGLLLFGP
Pig DIAGQELAKQALQEIVILPS LRPELFTGLRAPARGLLLFGP
Bovine DIAGQELAKQALQEIVILPS LRPELFTGLRAPARGLLLFGP
Chicken DIAGQELAKQALQEIVILPS LRPELFTGLRAPARGLLLFGP
Xenopus laevis DIAGQDLAKQALQEIVILPS IRPELFTGLRAPARGLLLFGP
Xenopus tropicalis DIAGQDLAKQALQEIVILPS IRPELFTGLRAPARGLLLFGP
Zebrafish DIAGQDLAKQALQEIVILPA LRPELFTGLRAPARGLLLFGP
Caenorhabditis elegans DVAGCHSAKAALEEAVILPA LNPNLFKGLRQPVKGILLFGP
Drosophila DIAGQDVAKQALQEMVILPS VRPELFTGLRAPAKGLLLFGP
Slime mold DVVGLDKVKQSLMESVILPN LRPDVFTGLRAPPKGLLLFGP
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.
Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
Wei Q.Q.; Chen Y.; Zheng Z.Z.; Chen X.; Huang R.; Yang Y.; Burgunder J.; Shang H.F.;
Parkinsonism Relat. Disord. 20:845-849(2014)
Cited for: VARIANTS SPG4 PRO-363; LEU-399; VAL-441 AND ARG-595;
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.