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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBP0: Variant p.Val162Ile

Spastin
Gene: SPAST
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Variant information Variant position: help 162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Valine (V) to Isoleucine (I) at position 162 (V162I, p.Val162Ile). 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: help 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: help 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: help In SPG4; likely benign. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 616 The length of the canonical sequence.
Location on the sequence: help KEQAVEWYKKGIEELEKGIA V IVTGQGEQCERARRLQAKMM 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KEQAVEWYKKGIEELEKGIAV-IVTGQGEQCERARRLQAKMM

Mouse                         KEQAVEWYKKGIEELEKGIAV-IVTGQGEQYERARRLQAKM

Rat                           KEQAVEWYKKGIEELEKGIAV-IVTGQGEQYERARRLQAKM

Pig                           KEQAVEWYKKGIEELEKGIAV-VVTGQGEQCERARRLQAKM

Bovine                        KDQAVEWYKKGIEELEKGIAV-VVTGQGEQCERARRLQAKM

Chicken                       KEQAVEWYKKGIEELERGIAV-LVVGQGDQCERARRLQSKM

Xenopus laevis                KEQAVQWYKKGIEELEKGIAV-PISGKGEQYDRARRLQAKM

Xenopus tropicalis            KEQAIQWYKKGIEELEKGIAV-TITGKGEQYDRARRLQAKM

Zebrafish                     KQKAVQWYRKGIAELEKGIQI-QVTGAGEKADRARKLQDKM

Caenorhabditis elegans        KLRTAELYKEARSLLKEANEFNIMDIPETRRSEIRDKRQNM

Drosophila                    KELAIELYRKGIKELEDGIAVDCWSGRGDVWDRAQRLHDKM

Slime mold                    LDESLK-YNSCIKLYIDGIEKLMALFSSYNSKEYRDYIDFY
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 616 Spastin
Topological domain 78 – 616 Cytoplasmic
Domain 120 – 195 MIT
Region 1 – 300 Required for interaction with RTN1
Region 1 – 194 Required for midbody localization
Region 112 – 196 Sufficient for interaction with CHMP1B
Region 114 – 200 Required for interaction with microtubules



Literature citations
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.
Braschinsky M.; Tamm R.; Beetz C.; Sachez-Ferrero E.; Raukas E.; Luus S.M.; Gross-Paju K.; Boillot C.; Canzian F.; Metspalu A.; Haldre S.;
BMC Neurol. 10:17-17(2010)
Cited for: VARIANTS LEU-44 AND GLY-229; VARIANTS SPG4 ILE-162; PHE-426 AND SER-460; Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
de Bot S.T.; van den Elzen R.T.; Mensenkamp A.R.; Schelhaas H.J.; Willemsen M.A.; Knoers N.V.; Kremer H.P.; van de Warrenburg B.P.; Scheffer H.;
J. Neurol. Neurosurg. Psych. 81:1073-1078(2010)
Cited for: VARIANTS SPG4 ILE-162; LYS-356; SER-365; ARG-382; ILE-407; PHE-422; ASN-445; SER-460; LEU-482; GLU-512 DEL; VAL-534 AND PRO-562; VARIANT LEU-44;
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.