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UniProtKB/Swiss-Prot Q9UBP0: Variant p.Leu195Val

Spastin
Gene: SPAST
Variant information

Variant position:  195
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 Leucine (L) to Valine (V) at position 195 (L195V, p.Leu195Val).
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:  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.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  195
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:   RRLQAKMMTNLVMAKDRLQL  L EKMQPVLPFSKSQTDVYNDS
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                         RRLQAKMMTNLVMAKDRLQLLEK-MQPVLPFSKSQTD---------------------VYNDS

Mouse                         RRLQAKMMTNLVMAKDRLQLLEK-LQPVLQFSKSQTD----

Rat                           RRLQAKMMTNLVMAKDRLQLLE-------------------

Pig                           RRLQAKMMTNLVMAKDRLQLLEK-LQPVLQFSKSQMD----

Bovine                        RRLQAKMMTNLVMAKDRLQLLEK-LQPSLQFSKSQTD----

Chicken                       RRLQSKMMTNLAMAKDRLQLLEK-LQADLQISKPQME----

Xenopus laevis                RRLQAKMSTNLIMAKDRLQLLAK-LQADIQGPHSQME----

Xenopus tropicalis            RRLQAKMSTNLLMAKDRLQLLAK-LKADIQGQHSQME----

Zebrafish                     RKLQDKMITNLSMAEDRLKLLGN-L-----LSQSPAE----

Caenorhabditis elegans        RDKRQNMMKLEKSAQDRLIAICNEVDPNVKQSRSATV----

Drosophila                    QRLHDKMQTNLSMARDRLHFLAL-REQDLQMQRLSLKEKQK

Slime mold                    RDYIDFYLKRAEYLKNELKKGTN-LKSITNFNNFSKE----

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.

TypePositionsDescription
Chain 1 – 616 Spastin
Topological domain 78 – 616 Cytoplasmic
Domain 120 – 195 MIT
Region 1 – 300 Required for interaction with RTN1
Region 112 – 196 Sufficient for interaction with CHMP1B
Region 114 – 200 Required for interaction with microtubules
Helix 169 – 195


Literature citations

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Crippa F.; Panzeri C.; Martinuzzi A.; Arnoldi A.; Redaelli F.; Tonelli A.; Baschirotto C.; Vazza G.; Mostacciuolo M.L.; Daga A.; Orso G.; Profice P.; Trabacca A.; D'Angelo M.G.; Comi G.P.; Galbiati S.; Lamperti C.; Bonato S.; Pandolfo M.; Meola G.; Musumeci O.; Toscano A.; Trevisan C.P.; Bresolin N.; Bassi M.T.;
Arch. Neurol. 63:750-755(2006)
Cited for: VARIANTS SPG4 VAL-195; VAL-406; GLY-493; HIS-499; TRP-503 AND CYS-607;

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.