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UniProtKB/Swiss-Prot Q9UBP0: Variant p.Pro45Gln

Chromosomal location: 2p21
Variant information

Variant position:  45
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Glutamine (Q) at position 45 (P45Q, p.Pro45Gln).
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:  Change from medium size and hydrophobic (P) to medium size and polar (Q)
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:  Rare polymorphism; acts as a disease modifier; patients carrying a mutated allele of spastin and Q-45 on the other allele are affected by severe spastic paraplegia with an early age of onset.
Any additional useful information about the variant.

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

Sequence information

Variant position:  45
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  616
The length of the canonical sequence.

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                         PPPCLAPAPPAAGPAPPPESP---------------HKRNLYYFSYPLFVGFA-LLR

Mouse                         PPPPAAVPAPAAGPAPAAGSP---------------PKRNP

Rat                           PPPPAAVPAPAAGPAPAPGSP---------------HKRNL

Pig                           PPPCLASSRPAPRPAPPPQSP---------------HKRNL

Bovine                        PPPCQARSRPAPKPAPPPQSP---------------HKRNL

Chicken                       PSGPAPPAPPAGAAAAAAASP---------------HKRNL

Xenopus laevis                PTTPPS-TETQVVLAPP--SP---------------HKRNL

Xenopus tropicalis            PTPPPPPAETQVLLAPP--SL---------------HKRNL

Zebrafish                     ACGPVSDGSARGN--------------------------RL

Caenorhabditis elegans        -----------------------------------------


Slime mold                    FYNSLEDDDYLLNNQTTKVSL------------------YL

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.

Chain 1 – 616 Spastin
Topological domain 1 – 56 Cytoplasmic
Region 1 – 300 Required for interaction with RTN1
Region 1 – 194 Required for midbody localization
Region 1 – 80 Required for interaction with ATL1
Region 1 – 50 Required for nuclear localization
Alternative sequence 1 – 86 Missing. In isoform 3 and isoform 4.
Mutagenesis 65 – 65 R -> G. Abolishes localization to lipid droplets.

Literature citations

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
Svenson I.K.; Kloos M.T.; Gaskell P.C.; Nance M.A.; Garbern J.Y.; Hisanaga S.; Pericak-Vance M.A.; Ashley-Koch A.E.; Marchuk D.A.;
Neurogenetics 5:157-164(2004)

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.