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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBP0: Variant p.Leu380His

Spastin
Gene: SPAST
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Variant information Variant position: help 380 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 Leucine (L) to Histidine (H) at position 380 (L380H, p.Leu380His). 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 medium size and hydrophobic (L) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 380 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 LPSLRPELFTGLRAPARGLL L FGPPGNGKTMLAKAVAAESN 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                         LPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Mouse                         LPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Rat                           LPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Pig                           LPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Bovine                        LPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Chicken                       LPSLRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Xenopus laevis                LPSIRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Xenopus tropicalis            LPSIRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAAESN

Zebrafish                     LPALRPELFTGLRAPARGLLLFGPPGNGKTMLAKAVAMESN

Caenorhabditis elegans        LPALNPNLFKGLRQPVKGILLFGPPGNGKTLLAKAVAGESK

Drosophila                    LPSVRPELFTGLRAPAKGLLLFGPPGNGKTLLARAVATECS

Slime mold                    LPNLRPDVFTGLRAPPKGLLLFGPPGNGKTMIAKAVAYESK
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
Mutagenesis 388 – 388 K -> A. Abrogates ATPase activity and abolishes microtubule severing.
Beta strand 376 – 386



Literature citations
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
Erichsen A.K.; Inderhaug E.; Mattingsdal M.; Eiklid K.; Tallaksen C.M.;
Eur. J. Neurol. 14:809-814(2007)
Cited for: VARIANTS SPG4 THR-364; HIS-380 AND HIS-579; VARIANT LEU-44; Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V.; Sanchez-Ferrero E.; Beetz C.; Diaz M.; Alonso B.; Corao A.I.; Gamez J.; Esteban J.; Gonzalo J.F.; Pascual-Pascual S.I.; Lopez de Munain A.; Moris G.; Ribacoba R.; Marquez C.; Rosell J.; Marin R.; Garcia-Barcina M.J.; Del Castillo E.; Benito C.; Coto E.;
BMC Neurol. 10:89-89(2010)
Cited for: VARIANTS SPG4 THR-287 DEL; LEU-293; LEU-328; ARG-378; HIS-380; PRO-391; 393-LYS--ALA-396 DEL; THR-409; ARG-410; PRO-436; ASN-441; SER-460; ALA-463; PHE-492; GLY-498; ARG-503 INS; GLY-514 AND THR-580;
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.