Variant position: 1450 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1807 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 WSASGEDSR--GQPEGPLPSSS PRSPSGLRPRGYTISDSAPSR
Mouse WSATGEESRITVPPEGPLPSSS PRSPSGLRPRGYTISDSAP
Rat WSAPGEESRITVPPEGPLPSSS PRSPSGLRPRGYTISDSAP
Fission yeast ---------------------- --------PHG--------
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 – 1807 Tuberin
1452 – 1452 Phosphoserine
1462 – 1462 Phosphothreonine; by PKB/AKT1
240 – 1807 Missing. In isoform 8.
1462 – 1462 T -> A. Inhibits insulin-stimulated phosphorylation and activation of S6K1; when associated with A-939.
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng J.-H.; Yamamoto T.; Nanba E.; Ninomiya H.; Oka A.; Ohno K.;
Hum. Mutat. 23:397-397(2004)
Cited for: VARIANTS TSC2 SER-1651; PHE-1653; LEU-1675 AND 1746-HIS--ARG-1751 DEL; VARIANTS THR-607; VAL-862; SER-1429 AND ARG-1450;
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.