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UniProtKB/Swiss-Prot Q9UBP0: Variant p.Ala556Val

Spastin
Gene: SPAST
Variant information

Variant position:  556
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Alanine (A) to Valine (V) at position 556 (A556V, p.Ala556Val).
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:  Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In SPG4; promotes microtubule binding and the formation of thick microtubule bundles.
Any additional useful information about the variant.



Sequence information

Variant position:  556
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:   QLARMTDGYSGSDLTALAKD  A ALGPIRELKPEQVKNMSASE
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                         QLARMTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASE

Mouse                         QLARMTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASE

Rat                           QLARMTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASE

Pig                           QLARLTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASE

Bovine                        QLARMTNGYSGSDLTALAKDAALGPIRELKPEQVKNMSASE

Chicken                       QLARMTDGYSGSDLTALAKDAALGPIRELKPEQVKNMSASE

Xenopus laevis                QLSRLTEGYSGSDITALAKDAALGPIRELKPEQVKNMAASE

Xenopus tropicalis            QLSRLTEGYSGSDITALAKDAALGPIRELKPEQVKNMAASE

Zebrafish                     QLARLTDGYSGSDLTSLAKDAALGPIRELKPEQVRNMSAHE

Caenorhabditis elegans        YIASNTSGFSNSDLVALCKEAAMVPIREIDRSKLSMTDGEK

Drosophila                    RLAKITDGYSGSDLTALAKDAALEPIRELNVEQVKCLDISA

Slime mold                    SLAEVTQGYSGFDLAALCKDAAYEPIRRLGIG-IKDLELNE

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.

TypePositionsDescription
Chain 1 – 616 Spastin
Topological domain 78 – 616 Cytoplasmic
Region 228 – 616 Sufficient for microtubule severing
Helix 546 – 557


Literature citations

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Errico A.; Ballabio A.; Rugarli E.I.;
Hum. Mol. Genet. 11:153-163(2002)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPG4 ARG-370; CYS-381; LYS-386; ARG-388; VAL-426; TYR-448; LEU-460; CYS-499 AND VAL-556;

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.