Variant position: 322 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 NSYGCATSTPYSTSRLMLLN MPGQLPQTLSSPSTRLITEPP
Mouse NSYGGSTSTPSSSSRLMLFS PPGQLPQSLSSPSTRLLPEPL
Rat NSYGGATSTPSSTSRLMLFS TPGQLPQSLSSLSTRPLPEPL
Fission yeast ---------------LMILS ---HICNSLDDSLYRLFCIYL
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
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones A.C.; Daniells C.E.; Snell R.G.; Tachataki M.; Idziaszczyk S.A.; Krawczak M.; Sampson J.R.; Cheadle J.P.;
Hum. Mol. Genet. 6:2155-2161(1997)
Cited for: VARIANT TSC1 GLU-726; VARIANTS THR-322; TYR-732 AND SER-1035;
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J.; Jozwiak S.; Hall F.; Henske E.P.; Haines J.L.; McNamara P.; Braiser J.; Wigowska-Sowinska J.; Kasprzyk-Obara J.; Short M.P.; Kwiatkowski D.J.;
Ann. Hum. Genet. 62:277-285(1998)
Cited for: VARIANTS THR-322; ARG-587; TYR-732; SER-1035 AND SER-1108;
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y.; Lawrence-Smith N.; Banwell A.; Hammer E.; Lewis J.; Beauchamp R.L.; Sims K.; Ramesh V.; Ozelius L.;
Hum. Mutat. 14:412-422(1999)
Cited for: VARIANTS THR-322; TYR-732 AND GLN-809;
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
Zhang H.; Nanba E.; Yamamoto T.; Ninomiya H.; Ohno K.; Mizuguchi M.; Takeshita K.;
J. Hum. Genet. 44:391-396(1999)
Cited for: VARIANTS TSC1 ILE-417; GLU-654 AND SER-899; VARIANT THR-322;
Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
Yamashita Y.; Ono J.; Okada S.; Wataya-Kaneda M.; Yoshikawa K.; Nishizawa M.; Hirayama Y.; Kobayashi E.; Seyama K.; Hino O.;
Am. J. Med. Genet. 90:123-126(2000)
Cited for: VARIANTS THR-322; ILE-417; ASP-577 AND ARG-829;
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