UniProtKB/Swiss-Prot O14994: Variant p.Ser470Asn

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 470 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Serine (S) to Asparagine (N) at position 470 (S470N, p.Ser470Asn). 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 medium size and polar (N) 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 patients affected by schizophrenia. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs5998526 [ dbSNP | Ensembl ]

Sequence information

Variant position: 470 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 580 The length of the canonical sequence.
Location on the sequence: PQRSGSPSQQRLSPQGQQPL S PQSGSPQQQRSPGSPQLSRA 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.
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 – 580	Synapsin-3
Region	395 – 567	Disordered
Region	400 – 531	J; Pro-rich linker
Compositional bias	445 – 526	Polar residues
Modified residue	455 – 455	Phosphoserine
Modified residue	462 – 462	Phosphoserine
Modified residue	470 – 470	Phosphoserine; by CDK1 and MAPK
Modified residue	475 – 475	Phosphoserine
Modified residue	481 – 481	Phosphoserine
Modified residue	484 – 484	Phosphoserine

Literature citations

A rare polymorphism affects a mitogen-activated protein kinase site in synapsin III: possible relationship to schizophrenia.
Porton B.; Ferreira A.; DeLisi L.E.; Kao H.T.;
Biol. Psychiatry 55:118-125(2004)
Cited for: PHOSPHORYLATION AT SER-470; VARIANT ASN-470;