UniProtKB/Swiss-Prot Q9UBP0: Variant p.Ile328Leu

Spastin
Gene: SPAST
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Variant information Variant position:

328 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 Isoleucine (I) to Leucine (L) at position 328 (I328L, p.Ile328Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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.

Sequence information Variant position:

328 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:

TRKKKDLKNFRNVDSNLANL I MNEIVDNGTAVKFDDIAGQD 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                         TRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQD

Mouse                         VRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQE

Rat                           VRKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQE

Pig                           PRKKKDLKNFRNVDSNLANFIMNEIVDNGTAVKFDDIAGQE

Bovine                        ARKKKDLKNFRNVDSNLANLIMNEIVDNGTAVKFDDIAGQE

Chicken                       ARKKKDTKVFRNVDSNLANLILNEIVDSGPAVKFDDIAGQE

Xenopus laevis                VR-KKDMKNLRNVDSNLANLILNEIVDSGPSVKFADIAGQD

Xenopus tropicalis            VR-KKDMKNLRNVDSNLANLILNEIVDSGPTVKFADIAGQD

Zebrafish                     PQRKRDMKNFKNVDSKLASLILNEIVDSGSVVRFDDIAGQD

Caenorhabditis elegans        NPVNRAAL-LNGVDKVIGERLLDEVLDN-TGVRMDDVAGCH

Drosophila                    VS-------VKGVEQKLVQLILDEIVEGGAKVEWTDIAGQD

Slime mold                    PP-SMVIPDIKGIDKSMVTLIMNEIMDRKNPVKWDDVVGLD

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
Region	270 – 328	Required for interaction with microtubules and microtubule severing
Helix	326 – 331

Literature citations
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V.; Sanchez-Ferrero E.; Beetz C.; Diaz M.; Alonso B.; Corao A.I.; Gamez J.; Esteban J.; Gonzalo J.F.; Pascual-Pascual S.I.; Lopez de Munain A.; Moris G.; Ribacoba R.; Marquez C.; Rosell J.; Marin R.; Garcia-Barcina M.J.; Del Castillo E.; Benito C.; Coto E.;
BMC Neurol. 10:89-89(2010)
Cited for: VARIANTS SPG4 THR-287 DEL; LEU-293; LEU-328; ARG-378; HIS-380; PRO-391; 393-LYS--ALA-396 DEL; THR-409; ARG-410; PRO-436; ASN-441; SER-460; ALA-463; PHE-492; GLY-498; ARG-503 INS; GLY-514 AND THR-580;

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.