UniProtKB/Swiss-Prot P17600: Variant p.Thr567Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 567 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 Threonine (T) to Alanine (A) at position 567 (T567A, p.Thr567Ala). 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 medium size and polar (T) to small size and hydrophobic (A) 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
Variant description: No effect on phosphorylation by CaMK2 and MAPK1; has no effect on axon elongation when tested in SYN1-knockout mouse neurons; slightly reduced protein targeting to presynapse. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs200533370 [ dbSNP | Ensembl ]

Sequence information

Variant position: 567 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 705 The length of the canonical sequence.
Location on the sequence: RPPASPSPQRQAGPPQATRQ T SVSGPAPPKASGAPPGGQQR 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 – 705	Synapsin-1
Region	418 – 689	Disordered
Region	421 – 655	D; Pro-rich linker
Compositional bias	553 – 590	Low complexity
Modified residue	547 – 547	Omega-N-methylarginine
Modified residue	551 – 551	Phosphoserine; by PDPK1
Modified residue	553 – 553	Phosphoserine
Modified residue	556 – 556	Omega-N-methylarginine
Modified residue	568 – 568	Phosphoserine; by CaMK2
Glycosylation	564 – 564	O-linked (GlcNAc) threonine
Glycosylation	578 – 578	O-linked (GlcNAc) serine

Literature citations

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
Fassio A.; Patry L.; Congia S.; Onofri F.; Piton A.; Gauthier J.; Pozzi D.; Messa M.; Defranchi E.; Fadda M.; Corradi A.; Baldelli P.; Lapointe L.; St-Onge J.; Meloche C.; Mottron L.; Valtorta F.; Khoa Nguyen D.; Rouleau G.A.; Benfenati F.; Cossette P.;
Hum. Mol. Genet. 20:2297-2307(2011)
Cited for: VARIANTS XLID50 THR-550 AND 555-GLN--ASP-705 DEL; CHARACTERIZATION OF VARIANTS XLID50 THR-550 AND 555-GLN--ASP-705 DEL; VARIANT ALA-567; CHARACTERIZATION OF VARIANT ALA-567; INVOLVEMENT IN XLID50; SUBCELLULAR LOCATION; FUNCTION; PHOSPHORYLATION;