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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBP0: Variant p.Ser362Cys

Spastin
Gene: SPAST
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Variant information Variant position: help 362 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Serine (S) to Cysteine (C) at position 362 (S362C, p.Ser362Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SPG4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 362 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 616 The length of the canonical sequence.
Location on the sequence: help DDIAGQDLAKQALQEIVILP S LRPELFTGLRAPARGLLLFG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DDIAGQDLAKQALQEIVILPSLRPELFTGLRAPARGLLLFG

Mouse                         DDIAGQELAKQALQEIVILPSLRPELFTGLRAPARGLLLFG

Rat                           DDIAGQELAKQALQEIVILPSLRPELFTGLRAPARGLLLFG

Pig                           DDIAGQELAKQALQEIVILPSLRPELFTGLRAPARGLLLFG

Bovine                        DDIAGQELAKQALQEIVILPSLRPELFTGLRAPARGLLLFG

Chicken                       DDIAGQELAKQALQEIVILPSLRPELFTGLRAPARGLLLFG

Xenopus laevis                ADIAGQDLAKQALQEIVILPSIRPELFTGLRAPARGLLLFG

Xenopus tropicalis            ADIAGQDLAKQALQEIVILPSIRPELFTGLRAPARGLLLFG

Zebrafish                     DDIAGQDLAKQALQEIVILPALRPELFTGLRAPARGLLLFG

Caenorhabditis elegans        DDVAGCHSAKAALEEAVILPALNPNLFKGLRQPVKGILLFG

Drosophila                    TDIAGQDVAKQALQEMVILPSVRPELFTGLRAPAKGLLLFG

Slime mold                    DDVVGLDKVKQSLMESVILPNLRPDVFTGLRAPPKGLLLFG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 616 Spastin
Topological domain 78 – 616 Cytoplasmic
Region 228 – 616 Sufficient for microtubule severing
Helix 359 – 363



Literature citations
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Hazan J.; Fonknechten N.; Mavel D.; Paternotte C.; Samson D.; Artiguenave F.; Davoine C.-S.; Cruaud C.; Durr A.; Wincker P.; Brottier P.; Cattolico L.; Barbe V.; Burgunder J.-M.; Prud'homme J.-F.; Brice A.; Fontaine B.; Heilig R.; Weissenbach J.;
Nat. Genet. 23:296-303(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANTS SPG4 CYS-362; TYR-448 AND CYS-499; 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;
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.