Protein Variants | Comment | Organism |
---|---|---|
additional information | somatic gain of function PIK3CA-mutation due to a pathogenic heterozygous missense mutation in PIK3CA, phenotype, overview | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | required | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P42336 | subunits PIK3CA/p110alpha | - |
Synonyms | Comment | Organism |
---|---|---|
PIK3CA | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | a patient with a somatic gain of function PIK3CA-mutation (a pathogenic heterozygous missense mutation in PIK3CA) shows extensive multisystem overgrowth, clinical diversity of the PIK3CA-related overgrowth spectrum (PROS), phenotype, overview. The patient has overlapping features of congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal abnormalities (CLOVES) syndrome and megalencephaly-capillary malformation polymicrogyria (MCAP) syndrome | Homo sapiens |