UniProtKB/SwissProt variant VAR

Variant information

Variant position:

344

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 Isoleucine (I) to Lysine (K) at position 344 (I344K, p.Ile344Lys).

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 (I) to large size and basic (K)

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; abrogates ATPase activity and promotes microtubule binding.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121908513 [ dbSNP | Ensembl ]

Sequence information

Variant position:

344

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:

LANLIMNEIVDNGTAVKFDD I AGQDLAKQALQEIVILPSLR

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                         LANLIMNEIVDNGTAVKFDDIAGQDLAKQALQEIVILPSLR

Mouse                         LANLIMNEIVDNGTAVKFDDIAGQELAKQALQEIVILPSLR

Rat                           LANLIMNEIVDNGTAVKFDDIAGQELAKQALQEIVILPSLR

Pig                           LANFIMNEIVDNGTAVKFDDIAGQELAKQALQEIVILPSLR

Bovine                        LANLIMNEIVDNGTAVKFDDIAGQELAKQALQEIVILPSLR

Chicken                       LANLILNEIVDSGPAVKFDDIAGQELAKQALQEIVILPSLR

Xenopus laevis                LANLILNEIVDSGPSVKFADIAGQDLAKQALQEIVILPSIR

Xenopus tropicalis            LANLILNEIVDSGPTVKFADIAGQDLAKQALQEIVILPSIR

Zebrafish                     LASLILNEIVDSGSVVRFDDIAGQDLAKQALQEIVILPALR

Caenorhabditis elegans        IGERLLDEVLDN-TGVRMDDVAGCHSAKAALEEAVILPALN

Drosophila                    LVQLILDEIVEGGAKVEWTDIAGQDVAKQALQEMVILPSVR

Slime mold                    MVTLIMNEIMDRKNPVKWDDVVGLDKVKQSLMESVILPNLR

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

Literature citations

Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.
Evans K.J.; Gomes E.R.; Reisenweber S.M.; Gundersen G.G.; Lauring B.P.;
J. Cell Biol. 168:599-606(2005)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; INTERACTION WITH MICROTUBULES; SUBCELLULAR LOCATION; MUTAGENESIS OF LYS-388 AND GLU-442; CHARACTERIZATION OF VARIANTS SPG4 LYS-344; LYS-347; LYS-386; ARG-388 AND CYS-499;

A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
Ki C.S.; Lee W.Y.; Han do H.; Sung D.H.; Lee K.B.; Lee K.A.; Cho S.S.; Cho S.; Hwang H.; Sohn K.M.; Choi Y.J.; Kim J.W.;
J. Hum. Genet. 47:473-477(2002)
Cited for: VARIANT SPG4 LYS-344;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBP0: Variant p.Ile344Lys