Variant position: 435 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 480 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 HVYEKKLSPPFKPQVTSETD TRYFDEEFTAQMITITPPDQD
Mouse DVYEKKLSPPFKPQVTSETD TRYFDEEFTAQMITITPPDQD
Rat DVYEKKLSPPFKPQVTSETD TRYFDEEFTAQMITITPPDQD
Bovine DVYEKKLSPPFKPQVTSETD TRYFDEEFTAQMITITPPDQD
Xenopus laevis DVYEKKLVPPFKPQVTSETD TRYFDEEFTAQMITITPPDQD
Caenorhabditis elegans ATYRKEIEPPYKPNVQSETD TSYFDNEFTSQPVQLTPPSRS
Drosophila DLVLKKIPPPFKPQVTSDTD TRYFDKEFTGESVELTPPDPT
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 – 480 RAC-alpha serine/threonine-protein kinase
409 – 480 AGC-kinase C-terminal
448 – 448 Phosphothreonine
450 – 450 Phosphothreonine
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 CWS6 CYS-25 AND PRO-435;
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.