Variant position: 1227 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 SWLMSLENPLSPFSSDINNM PLQELSNALMAAERFKEHRDT
Mouse SWLMSLENPLSPFSSDINNM PLQELSNALMAAERFKEHGHA
Rat SWLMSLENPLSPFSSDINNM PLQELSNALMAAERFKEHRDT
Fission yeast QYTFRNEASLQKFLWEENLT SSKALTRGLLC----------
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
240 – 1807 Missing. In isoform 8.
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.
Wilson P.J.; Ramesh V.; Kristiansen A.; Bove C.; Jozwiak S.; Kwiatkowski D.J.; Short M.P.; Haines J.L.;
Hum. Mol. Genet. 5:249-256(1996)
Cited for: VARIANTS TSC2 ILE-449; TRP-611; LEU-1227; TRP-1240; PHE-1509 DEL AND GLU-1712;
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