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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBP0: Variant p.Ser399Leu

Spastin
Gene: SPAST
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Variant information Variant position: help 399 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 Leucine (L) at position 399 (S399L, p.Ser399Leu). 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 hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 399 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 LLFGPPGNGKTMLAKAVAAE S NATFFNISAASLTSKYVGEG 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                         LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Mouse                         LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Rat                           LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Pig                           LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Bovine                        LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Chicken                       LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Xenopus laevis                LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Xenopus tropicalis            LLFGPPGNGKTMLAKAVAAESNATFFNISAASLTSKYVGEG

Zebrafish                     LLFGPPGNGKTMLAKAVAMESNATFFNISAATLTSKYVGEG

Caenorhabditis elegans        LLFGPPGNGKTLLAKAVAGESKQMFFNISASSLTSKWVGDS

Drosophila                    LLFGPPGNGKTLLARAVATECSATFLNISAASLTSKYVGDG

Slime mold                    LLFGPPGNGKTMIAKAVAYESKVTFFSISSSSLTSKYVGDG
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.
Mutagenesis 415 – 415 Y -> A. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.



Literature citations
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
Meijer I.A.; Hand C.K.; Cossette P.; Figlewicz D.A.; Rouleau G.A.;
Arch. Neurol. 59:281-286(2002)
Cited for: VARIANTS SPG4 LEU-399; VAL-426; LEU-489; ASP-559 AND GLN-562; Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L.; Baratta S.; Panzeri M.; Tomasello C.; Lovati C.; Azzollini J.; Gellera C.; Di Bella D.; Taroni F.; Mariotti C.;
Neurosci. Lett. 528:42-45(2012)
Cited for: VARIANTS SPG4 THR-95; 112-GLU--VAL-616 DEL; 135-GLU--VAL-616 DEL; LEU-399; ARG-406; THR-409; VAL-426; 431-ARG--VAL-616 DEL; CYS-460; TRP-503; ARG-559 AND 562-ARG--VAL-616 DEL; Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.
Kim T.H.; Lee J.H.; Park Y.E.; Shin J.H.; Nam T.S.; Kim H.S.; Jang H.J.; Semenov A.; Kim S.J.; Kim D.S.;
J. Clin. Neurol. 10:257-261(2014)
Cited for: VARIANTS SPG4 44-SER--VAL-616 DEL; 245-SER--VAL-616 DEL; 254-LYS--VAL-616 DEL; GLY-372; LEU-399; ARG-451 DEL; ARG-458; HIS-499 AND 581-ARG--VAL-616 DEL; 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;
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.