UniProtKB/SwissProt variant VAR

Variant information

Variant position:

510

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 Alanine (A) to Valine (V) at position 510 (A510V, p.Ala510Val).

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 small size and hydrophobic (A) to medium size and hydrophobic (V)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 SPG7; function impaired.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs61755320 [ dbSNP | Ensembl ]

Sequence information

Variant position:

510

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

Protein sequence length:

795

The length of the canonical sequence.

Location on the sequence:

EQHLKSLKLTQSSTFYSQRL A ELTPGFSGADIANICNEAAL

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                         EQHLKSLKLTQSSTFYSQRLAELTPGFSGADIANICNEAAL

Mouse                         EQHLKGLKLTQPSSFYSQRLAELTPGFSGADIANICNEAAL

Rat                           EQHLKGLKLTQPSSFYSQRLAELTPGFSGADIANICNEAAL

Slime mold                    DS------WTYDNIIYTVYQVNLT------NIGTLSVESVI

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	106 – 795	Paraplegin
Topological domain	270 – 795	Mitochondrial matrix
Binding site	492 – 492	ATP
Modified residue	505 – 505	3'-nitrotyrosine
Alternative sequence	490 – 795	Missing. In isoform 2.
Helix	502 – 511

Literature citations

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
Elleuch N.; Depienne C.; Benomar A.; Hernandez A.M.; Ferrer X.; Fontaine B.; Grid D.; Tallaksen C.M.E.; Zemmouri R.; Stevanin G.; Durr A.; Brice A.;
Neurology 66:654-659(2006)
Cited for: VARIANTS SPG7 VAL-510 AND VAL-581 DEL; VARIANTS THR-2; GLN-82 DEL; PRO-284; HIS-294; GLN-486 ALA-503; LEU-545; THR-603; LEU-635; THR-645; HIS-650; GLN-688 AND ASP-730;

Functional evaluation of paraplegin mutations by a yeast complementation assay.
Bonn F.; Pantakani K.; Shoukier M.; Langer T.; Mannan A.U.;
Hum. Mutat. 31:617-621(2010)
Cited for: VARIANTS SPG7 SER-349; VAL-510 AND CYS-583; VARIANTS ALA-503 AND GLN-688; CHARACTERIZATION OF VARIANTS SPG7 SER-349; VAL-510 AND CYS-583; CHARACTERIZATION OF VARIANTS ALA-503 AND GLN-688;

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E.; Tucci A.; Manzoni C.; Lynch D.S.; Elpidorou M.; Bettencourt C.; Chelban V.; Manole A.; Hamed S.A.; Haridy N.A.; Federoff M.; Preza E.; Hughes D.; Pittman A.; Jaunmuktane Z.; Brandner S.; Xiromerisiou G.; Wiethoff S.; Schottlaender L.; Proukakis C.; Morris H.; Warner T.; Bhatia K.P.; Korlipara L.V.; Singleton A.B.; Hardy J.; Wood N.W.; Lewis P.A.; Houlden H.;
Brain 139:1904-1918(2016)
Cited for: VARIANT SPG7 VAL-510;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UQ90: Variant p.Ala510Val