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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBP0: Variant p.Pro293Leu

Spastin
Gene: SPAST
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Variant information Variant position: help 293 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 Proline (P) to Leucine (L) at position 293 (P293L, p.Pro293Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 293 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 SMVSGVKQGSGPAPTTHKGT P KTNRTNKPSTPTTATRKKKD 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                         SMVSGVKQGS--GPAPTTHKGTP-KTNRTNKPSTPTTATRKKKD

Mouse                         SMVSGARPGP--GPAATTHKGTP-KPNRTNKPSTPTTAVRK

Rat                           SMVSGARPGS--GPAATTHKGTS-KPNRTNKPSTPTTAVRK

Pig                           SIVSGMRQGP--GPTTATHKSTP-KTNRTNKPSTPTTAPRK

Bovine                        SMVSGVRQGP--GSAAATHKSTP-KTNRTNKPSTPTTAARK

Chicken                       STASVSRPAA--NPATSTHKAAP-KNSRTNKPSTPTPAARK

Xenopus laevis                SVPTSARQAG--AHTPSNRGATGKNNTRTNKPATPTTAVR-

Xenopus tropicalis            S--SSARQAG--PNAPSNRGAAGKNNTRTNKPTTPTTAVR-

Zebrafish                     NCTPSAAQSSRTGPQNNQKGPTVKGKNNVKASTTATASPQR

Caenorhabditis elegans        DTV---HPEP--PVQASNRKMETVKRVKVDKASLPMHQNPV

Drosophila                    TPPAVRRQFSSGRNTPPQRSRTPINNNGPSGSGASTPVVS-

Slime mold                    NTSTITSPGNKYGLQKSLSSTTLSLKKSSNSTNFQQPSPP-
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 1 – 300 Required for interaction with RTN1
Region 228 – 616 Sufficient for microtubule severing
Region 270 – 328 Required for interaction with microtubules and microtubule severing
Region 278 – 312 Disordered
Compositional bias 278 – 305 Polar residues
Modified residue 306 – 306 Phosphothreonine



Literature citations
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.