Variant position: 1027 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 SVAQADDSLKNLHLELTETC L---DMMARYVFSNFTAVPKRSPV
Mouse SMAQADDNLKNLHLELTETC L---DMMARYVFSNFTAVPKR
Rat SMAQADDNLKNLHLELTETC L---DMMARYVFSNFTAVPKR
Fission yeast ---------------LEDLC LVQYDMMQQFCYSNSDI---N
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.
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M.; Girimaji S.C.; Markandaya M.; Shukla A.K.; Sacchidanand S.; Kumar A.;
Acta Neurol. Scand. 111:54-63(2005)
Cited for: VARIANTS TSC2 GLN-611; TRP-611 AND PRO-1027; VARIANTS GLN-367; ARG-1341; ASN-1636 AND LEU-1673;
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