Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42336: Variant p.Met1043Ile

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Gene: PIK3CA
Feedback?
Variant information Variant position: help 1043 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 Methionine (M) to Isoleucine (I) at position 1043 (M1043I, p.Met1043Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1043 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1068 The length of the canonical sequence.
Location on the sequence: help RKTLALDKTEQEALEYFMKQ M NDAHHGGWTTKMDWIFHTIK 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                         RKTLALDKTEQEALEYFMKQMNDAHHGGWTTKMDWIFHTIK

Mouse                         RKTLALDKTEQEALEYFTKQMNDAHHGGWTTKMDWIFHTIK

Rat                           RKTLALDKTEQEALEYFTKQMNDAHHGGWTTKMDWIFHTIK

Bovine                        RKTLALDKTEQEALEYFMKQMNDAHHGGWTTKMDWIFHTIK
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 – 1068 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
Domain 765 – 1051 PI3K/PI4K catalytic
Helix 1032 – 1047



Literature citations
Functional analysis of PIK3CA gene mutations in human colorectal cancer.
Ikenoue T.; Kanai F.; Hikiba Y.; Obata T.; Tanaka Y.; Imamura J.; Ohta M.; Jazag A.; Guleng B.; Tateishi K.; Asaoka Y.; Matsumura M.; Kawabe T.; Omata M.;
Cancer Res. 65:4562-4567(2005)
Cited for: INVOLVEMENT IN CRC; CHARACTERIZATION OF VARIANTS CRC HIS-38; VAL-106; ARG-420; GLN-453; LYS-542; LYS-545; ILE-1043 AND ARG-1047; High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma.
Oda K.; Stokoe D.; Taketani Y.; McCormick F.;
Cancer Res. 65:10669-10673(2005)
Cited for: VARIANTS CANCER GLN-542; LYS-542; GLY-545; LYS-545; ARG-1007; HIS-1021; CYS-1021; VAL-1035; ILE-1043; TYR-1047; ARG-1047; ASP-1050; LYS-1052 AND LEU-1065; De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Riviere J.B.; Mirzaa G.M.; O'Roak B.J.; Beddaoui M.; Alcantara D.; Conway R.L.; St-Onge J.; Schwartzentruber J.A.; Gripp K.W.; Nikkel S.M.; Worthylake T.; Sullivan C.T.; Ward T.R.; Butler H.E.; Kramer N.A.; Albrecht B.; Armour C.M.; Armstrong L.; Caluseriu O.; Cytrynbaum C.; Drolet B.A.; Innes A.M.; Lauzon J.L.; Lin A.E.; Mancini G.M.; Meschino W.S.; Reggin J.D.; Saggar A.K.; Lerman-Sagie T.; Uyanik G.; Weksberg R.; Zirn B.; Beaulieu C.L.; Majewski J.; Bulman D.E.; O'Driscoll M.; Shendure J.; Graham J.M. Jr.; Boycott K.M.; Dobyns W.B.;
Nat. Genet. 44:934-940(2012)
Cited for: VARIANTS MCAP LYS-81; GLN-88; ARG-364; LYS-365; TYR-378; GLU-453 DEL; LYS-545; LYS-726; ARG-914; CYS-1021; ALA-1025; VAL-1035; ILE-1043; TYR-1047 AND SER-1049;
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.