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UniProtKB/Swiss-Prot Q9UBP0: Variant p.Leu534Pro

Spastin
Gene: SPAST
Variant information

Variant position:  534
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 Leucine (L) to Proline (P) at position 534 (L534P, p.Leu534Pro).
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:  -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:  In SPG4.
Any additional useful information about the variant.

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



Sequence information

Variant position:  534
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:   RLLLLKNLLCKQGSPLTQKE  L AQLARMTDGYSGSDLTALAK
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                         RLLLLKNLLCKQG--SPLTQKELAQLARMTDGYSGSDLTALAK

Mouse                         RLLLLKNLLCKQG--SPLTQKELAQLARMTDGYSGSDLTAL

Rat                           RLLLLKNLLCKQG--SPLTQKELAQLARMTDGYSGSDLTAL

Pig                           RLLLLKNLLCKQG--SPLTQKELAQLARLTDGYSGSDLTAL

Bovine                        RLLLLKNLLCKQG--SPLTQKELAQLARMTNGYSGSDLTAL

Chicken                       RLILLKNLLSKQG--SPLTQKELAQLARMTDGYSGSDLTAL

Xenopus laevis                RLVLLKNLLSKQG--NPLSEKELTQLSRLTEGYSGSDITAL

Xenopus tropicalis            RLLLLKNLLSKQG--NPLNEKELTQLSRLTEGYSGSDITAL

Zebrafish                     RLKLLKNLLSKHR--NPLSQKELSQLARLTDGYSGSDLTSL

Caenorhabditis elegans        RKELITKTLKKHNMMDGLISSDIRYIASNTSGFSNSDLVAL

Drosophila                    RELLLNRLLQKQG--SPLDTEALRRLAKITDGYSGSDLTAL

Slime mold                    RLQIIQHLLVGQR--HSLTKQQINSLAEVTQGYSGFDLAAL

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 531 – 540


Literature citations

Novel spastin mutations and their expression analysis in two Italian families.
Molon A.; Montagna P.; Angelini C.; Pegoraro E.;
Eur. J. Hum. Genet. 11:710-713(2003)
Cited for: VARIANT SPG4 PRO-534;

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.