Variant information:

(Click the titles to show more information.)

Variant position: 991

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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
• Polymorphism: No disease-association has been reported.
• Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change: From Glycine (G) to Arginine (R) at position 991 (G991R, p.Gly991Arg).

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 glycine (G) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score: -2

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

Sequence information:

(Click the titles to show more information.)

Variant position: 991

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

Protein sequence length: 1343

The length of the canonical sequence.

Location on the sequence:  PPGDTFAPFHGYSKSEDLSS  G VPKPPAASILHSHSYSDEFG

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                         PPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFG

Mouse                         PPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFG

Rat                           PPGDTFAPFHGYSKSEDLSTGVPKPPAASILHSHSYSDEFG

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 – 1343	Ras GTPase-activating protein SynGAP

Literature citations

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
Hamdan F.F.; Daoud H.; Piton A.; Gauthier J.; Dobrzeniecka S.; Krebs M.O.; Joober R.; Lacaille J.C.; Nadeau A.; Milunsky J.M.; Wang Z.; Carmant L.; Mottron L.; Beauchamp M.H.; Rouleau G.A.; Michaud J.L.;
Biol. Psychiatry 69:898-901(2011)
Cited for: INVOLVEMENT IN MRD5; VARIANTS ARG-991 AND THR-1115;