Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48736: Variant p.Arg49Ser

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform
Gene: PIK3CG
Feedback?
Variant information Variant position: help 49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Arginine (R) to Serine (S) at position 49 (R49S, p.Arg49Ser). 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 large size and basic (R) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In IMD97; loss-of-function variant unable to rescue reduced T-cell activation when expressed in Jurkat PIK3CG-deficient cells. Any additional useful information about the variant.


Sequence information Variant position: help 49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1102 The length of the canonical sequence.
Location on the sequence: help AASLSSMELIPIEFVLPTSQ R KCKSPETALLHVAGHGNVEQ 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                         AASLSSMELIPIEFVLPTSQRKCKSPETALLHVAGHGNVEQ

Mouse                         AGSLSSMELIPIEFVLPTSQRISKTPETALLHVAGHGNVEQ

Pig                           AASLSSMELIPIEFVLPTSQRNTKTPETALLHVAGHGNVEQ
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 – 1102 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform
Domain 34 – 141 PI3K-ABD



Literature citations
Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.
Thian M.; Hoeger B.; Kamnev A.; Poyer F.; Koestel Bal S.; Caldera M.; Jimenez-Heredia R.; Huemer J.; Pickl W.F.; Gross M.; Ehl S.; Lucas C.L.; Menche J.; Hutter C.; Attarbaschi A.; Dupre L.; Boztug K.;
Haematologica 105:e488-e488(2020)
Cited for: VARIANTS IMD97 SER-49 AND SER-1085; CHARACTERIZATION OF VARIANTS IMD97 SER-49 AND SER-1085; INVOLVEMENT IN IMD97; FUNCTION;
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.