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UniProtKB/Swiss-Prot Q9UBP0: Variant p.Ser229Gly

Spastin
Gene: SPAST
Variant information

Variant position:  229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Glycine (G) at position 229 (S229G, p.Ser229Gly).
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 small size and polar (S) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

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



Sequence information

Variant position:  229
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:   TDVYNDSTNLACRNGHLQSE  S GAVPKRKDPLTHTSNSLPRS
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                         TD---------------------VYNDSTNLACRNGHLQSE--SGAVP-----------KRKDPLTHTSNSLPRS

Mouse                         TD---------------------VYNESTNLTCRNGHLQSE

Rat                           -----------------------------------------

Pig                           MD---------------------VYNDSTNLTCRNGHLQSE

Bovine                        TD---------------------VYNDSTNLTCRNGHLQSE

Chicken                       ME---------------------VYNDSTNLACRNGHLQSE

Xenopus laevis                ME---------------------VCSDNTNLPCRNGLLKPE

Xenopus tropicalis            ME---------------------VCSDNTNLPCRNGLLKPE

Zebrafish                     AE---------------------SSSDDSFYSFSNGNLRPA

Caenorhabditis elegans        TV-------------------------GPSRPASAARVTPR

Drosophila                    LKEKQKEEAQSKPQKTREPMLAGMTNEPMKLRVRSSGYGPK

Slime mold                    KE---------------------YQINYNNKILEQQQQQQQ

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
Region 1 – 300 Required for interaction with RTN1
Region 228 – 616 Sufficient for microtubule severing
Modified residue 245 – 245 Phosphoserine


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;

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.