Variant position: 365 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:
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 NVNIRDIDKIYVRTGIYHGG EPLCDNVNTQRVPCSNPRWNE
Mouse NVNIRDIDKIYVRTGIYHGG EPLCDNVNTQRVPCSNPRWNE
Rat NVNIRDIDKIYVRTGIYHGG EPLCDNVNTQRVPCSNPRWNE
Bovine NVNIRDIDKIYVRTGIYHGG EPLCDNVNTQRVPCSNPRWNE
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
1 – 1068 Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
330 – 487 C2 PI3K-type
365 – 368
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;
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.