UniProtKB/Swiss-Prot Q9UBP0: Variant p.Met390Thr

Spastin
Gene: SPAST
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Variant information Variant position:

390 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 Methionine (M) to Threonine (T) at position 390 (M390T, p.Met390Thr). 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 (M) to medium size and polar (T) 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; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1131691977 [ dbSNP | Ensembl ]

Sequence information Variant position:

390 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:

GLRAPARGLLLFGPPGNGKT M LAKAVAAESNATFFNISAAS 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                         GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Mouse                         GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Rat                           GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Pig                           GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Bovine                        GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Chicken                       GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Xenopus laevis                GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Xenopus tropicalis            GLRAPARGLLLFGPPGNGKTMLAKAVAAESNATFFNISAAS

Zebrafish                     GLRAPARGLLLFGPPGNGKTMLAKAVAMESNATFFNISAAT

Caenorhabditis elegans        GLRQPVKGILLFGPPGNGKTLLAKAVAGESKQMFFNISASS

Drosophila                    GLRAPAKGLLLFGPPGNGKTLLARAVATECSATFLNISAAS

Slime mold                    GLRAPPKGLLLFGPPGNGKTMIAKAVAYESKVTFFSISSSS

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	78 – 616	Cytoplasmic
Region	228 – 616	Sufficient for microtubule severing
Mutagenesis	388 – 388	K -> A. Abrogates ATPase activity and abolishes microtubule severing.
Helix	388 – 398

Literature citations
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V.; Tucci A.; Lynch D.S.; Polke J.M.; Santos L.; Jonvik H.; Groppa S.; Wood N.W.; Houlden H.;
J. Neurol. Neurosurg. Psych. 88:681-687(2017)
Cited for: VARIANTS SPG4 LYS-328; LYS-366; LEU-368; VAL-368; THR-372; TYR-386; THR-390; ALA-418; TYR-470; THR-485; MET-498 AND 546-GLY--VAL-616 DEL;

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.