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UniProtKB/Swiss-Prot P42336: Variant p.Glu545Ala

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Gene: PIK3CA
Variant information

Variant position:  545
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glutamate (E) to Alanine (A) at position 545 (E545A, p.Glu545Ala).
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 acidic (E) to small size and hydrophobic (A)
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 CWS5 and HCC; also found in a glioblastoma multiforme sample.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  545
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1068
The length of the canonical sequence.

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.





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.

Chain 1 – 1068 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Domain 517 – 694 PIK helical
Helix 545 – 553

Literature citations

PIK3CA mutations in glioblastoma multiforme.
Hartmann C.; Bartels G.; Gehlhaar C.; Holtkamp N.; von Deimling A.;
Acta Neuropathol. 109:639-642(2005)
Cited for: VARIANTS CANCER GLN-88; LYS-542; ALA-545 AND ASN-1025;

PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas.
Lee J.W.; Soung Y.H.; Kim S.Y.; Lee H.W.; Park W.S.; Nam S.W.; Kim S.H.; Lee J.Y.; Yoo N.J.; Lee S.H.;
Oncogene 24:1477-1480(2005)
Cited for: VARIANT HCC ALA-545;

Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
Orloff M.S.; He X.; Peterson C.; Chen F.; Chen J.L.; Mester J.L.; Eng C.;
Am. J. Hum. Genet. 92:76-80(2013)
Cited for: VARIANTS CWS5 ASP-118; LYS-135; LYS-218; ILE-356; LYS-382 AND ALA-545;

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.