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UniProtKB/Swiss-Prot Q9Y6H5: Variant p.Arg621Cys

Synphilin-1
Gene: SNCAIP
Variant information

Variant position:  621
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Arginine (R) to Cysteine (C) at position 621 (R621C, p.Arg621Cys).
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 large size and basic (R) to medium size and polar (C)
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:  Found in patients with symptoms of Parkinson disease; unknown pathological significance; reduced number of cytoplasmic inclusions in cells expressing C-621 compared with cells expressing wild-type (wt) protein when subjected to proteasomal inhibition; C-621 transfected cells are more susceptible to staurosporine-induced cell death than cells expressing wt protein.
Any additional useful information about the variant.

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



Sequence information

Variant position:  621
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  919
The length of the canonical sequence.

Location on the sequence:   LSASSRARPKAKDEDSDKIL  R QLLGKEISENVCTQEKLSLE
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                         LSASSRARPKAKDEDSDKILRQLLGKEISENVCTQEKLSLE

Mouse                         LSVSSRARTKGKDEDSDKILRQLLGKEISENVCTQEKLSLE

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 – 919 Synphilin-1
Repeat 603 – 632 ANK 5
Alternative sequence 542 – 919 Missing. In isoform 6.


Literature citations

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease.
Marx F.P.; Holzmann C.; Strauss K.M.; Li L.; Eberhardt O.; Gerhardt E.; Cookson M.R.; Hernandez D.; Farrer M.J.; Kachergus J.; Engelender S.; Ross C.A.; Berger K.; Schols L.; Schulz J.B.; Riess O.; Kruger R.;
Hum. Mol. Genet. 12:1223-1231(2003)
Cited for: VARIANT CYS-621; CHARACTERIZATION OF VARIANT CYS-621; POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO PARKINSON DISEASE;

Genetic association study of synphilin-1 in idiopathic Parkinson's disease.
Myhre R.; Klungland H.; Farrer M.J.; Aasly J.O.;
BMC Med. Genet. 9:19-19(2008)
Cited for: VARIANTS ALA-44; CYS-621 AND GLN-706; LACK OF ASSOCIATION WITH PARKINSON DISEASE;

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.