UniProtKB/Swiss-Prot Q9UBP0: Variant p.Pro45Gln

Spastin
Gene: SPAST
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Variant information Variant position:

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

LB/B 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 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:

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.

Variant rs121908517 [ dbSNP | Ensembl ]

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.
Location on the sequence:

PPPCLAPAPPAAGPAPPPES P HKRNLYYFSYPLFVGFALLR 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                         PPPAAVPA-PAAGPAPAAGSP---------------PKRNP

Rat                           PPPAAVPA-PAAGPAPAPGSP---------------HKRNL

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

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

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

Xenopus laevis                PGSPTTPPSTETQVVLAPPSP---------------HKRNL

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

Zebrafish                     -----------------DGSA---------------RGNRL

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

Drosophila                    SPDGDDDTTTTDDLTPTTCSPRSGHHHSYGGYSSSVHKQNL

Slime mold                    KNNFYNSLEDDDYLLNNQTTK---------------VSLYL

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.

Type	Positions	Description
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)
Cited for: VARIANTS SPG4 VAL-470 AND GLY-562; VARIANTS LEU-44 AND GLN-45;

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.