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.
Location on the sequence:
ENDKEQLKAISTRDPLSEIT
E QEKDFLWSHRHYCVTIPEIL
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 ENDKEQLKAISTRDPLSEITE QEKDFLWSHRHYCVTIPEIL
Mouse ENDKEQLRALCTRDPLSEITE QEKDFLWSHRHYCVTIPEIL
Rat ENDKEQLRALCTRDPLSEITE QEKDFLWSHRHYCVTIPEIL
Bovine ENDKEQLRAICTRDPLSEITE QEKDFLWSHRHYCVTIPEIL
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 – 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.