Variant position: 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1164 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 KLSQAPLLPSLLKCLKMDTD VVVLTTGVLVLITMLP----MIPQS
Mouse KLSQAPLLPSLLKCLKMDTD VVVLTTGVLVLITMLP----M
Rat KLSQAPLLPSLLKCLKMDTD VVVLTTGVLVLITMLP----M
Fission yeast QIF-FPFLNSPTQLKPVFSD LKSILFYILIFHDEDEWGGDL
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 – 1164 Hamartin
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M.; Ekong R.; Povey S.; Karbassi I.; Batish S.D.; den Dunnen J.T.; van Eeghen A.; Thiele E.; Mayer K.; Dies K.; Wen L.; Thompson C.; Sparagana S.P.; Davies P.; Aalfs C.; van den Ouweland A.; Halley D.; Nellist M.;
Hum. Mutat. 33:476-479(2012)
Cited for: VARIANTS TSC1 ARG-61; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; PRO-523; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146; VARIANTS SER-158; PRO-204; SER-448 AND VAL-567; CHARACTERIZATION OF VARIANTS TSC1 ARG-61; PRO-117; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; PRO-523; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146; CHARACTERIZATION OF VARIANTS SER-158; PRO-204; SER-448 AND VAL-567;
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.