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UniProtKB/Swiss-Prot Q9UBP0: Variant p.Val482Leu

Spastin
Gene: SPAST
Variant information

Variant position:  482
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Valine (V) to Leucine (L) at position 482 (V482L, p.Val482Leu).
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:  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:  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:  In SPG4; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  482
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:   KTEFLIEFDGVQSAGDDRVL  V MGATNRPQELDEAVLRRFIK
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                         KTEFLIEFDGVQSAGD-DRVLVMGATNRPQELDEAVLRRFIK

Mouse                         KTEFLIEFDGVQSAGD-DRVLVMGATNRPQELDEAVLRRFI

Rat                           KTEFLIEFDGVQSAGD-DRVLVMGATNRPQELDEAVLRRFI

Pig                           KTEFLIEFDGVQSAGD-DRVLVMGATNRPQELDEAVLRRFI

Bovine                        KTEFLIEFDGVQSAGD-DRVLVMGATNRPQELDEAVLRRFT

Chicken                       KTEFLIEFDGVQSSGE-DRILVMGATNRPQELDDAVLRRFT

Xenopus laevis                KTEFLIEFDGVQSGGD-DRVLVMGATNRPQELDDAVLRRFT

Xenopus tropicalis            KTEFLIEFDGVQSGGD-DRVLVMGATNRPQELDDAVLRRFT

Zebrafish                     KTEFLIEFDGVQSGGD-ERVLVMGATNRPQELDEAVLRRFA

Caenorhabditis elegans        KTEFLVQFDGATSSAD-DRILVIGATNRPHELDDAVLRRFP

Drosophila                    KTEFLVEFDGLPGNPDGDRIVVLAATNRPQELDEAALRRFT

Slime mold                    KTEILVQFDGARTNGD-ERVLVMGATNRPEDLDDAALRRLV

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
Beta strand 480 – 487


Literature citations

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
de Bot S.T.; van den Elzen R.T.; Mensenkamp A.R.; Schelhaas H.J.; Willemsen M.A.; Knoers N.V.; Kremer H.P.; van de Warrenburg B.P.; Scheffer H.;
J. Neurol. Neurosurg. Psych. 81:1073-1078(2010)
Cited for: VARIANTS SPG4 ILE-162; LYS-356; SER-365; ARG-382; ILE-; PHE-422; ASN-445; SER-460; LEU-482; GLU-512 DEL; VAL-534 AND PRO-562; VARIANT LEU-44;

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.