Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99490: Variant p.Glu767Val

Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2
Gene: AGAP2
Feedback?
Variant information Variant position: help 767 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Glutamate (E) to Valine (V) at position 767 (E767V, p.Glu767Val). 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: help Change from medium size and acidic (E) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In a glioblastoma cell line. Any additional useful information about the variant.


Sequence information Variant position: help 767 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1192 The length of the canonical sequence.
Location on the sequence: help FGPSASINGLVKDMSTVQMG E GLEATTPMPSPSPSPSSLQP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPSSLQP

Mouse                         FGPSASINGLVKDMSTVQMGEGPEASTPMPSPSPSPSSLQL

Rat                           FGPSASINGLVKDMSTVQMGEGPEASTPMPSPSPSPSSLQL

Sequence annotation in neighborhood: help 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 – 1192 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2
Domain 676 – 910 PH
Modified residue 750 – 750 Phosphoserine
Modified residue 752 – 752 Phosphoserine



Literature citations
Phosphoinositol lipids bind to phosphatidylinositol 3 (PI3)-kinase enhancer GTPase and mediate its stimulatory effect on PI3-kinase and Akt signalings.
Hu Y.; Liu Z.; Ye K.;
Proc. Natl. Acad. Sci. U.S.A. 102:16853-16858(2005)
Cited for: VARIANTS ALA-455; GLY-518; ILE-568; VAL-651; VAL-767; ASP-939; MET-947 AND PRO-1022; SUBCELLULAR LOCATION;
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.