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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49815: Variant p.Arg611Trp

Tuberin
Gene: TSC2
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Variant information Variant position: help 611 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Tryptophan (W) at position 611 (R611W, p.Arg611Trp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In TSC2; impairs phosphorylation at S-1387, S-1418 and S-1420. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 611 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1807 The length of the canonical sequence.
Location on the sequence: help VSHIQLHYKHSYTLPIASSI R LQAFDFLLLLRADSLHRLGL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VSHIQLHYK-HSYTLPIASSIRLQAFDFLLLLRADSLHRLGL

Mouse                         ISHIQLHYK-HGYSLPIASSIRLQAFDFLLLLRADSLHRLG

Rat                           ISHIQLHYK-HGYSLPIASSIRLQAFDFLLLLRADSLHRLG

Fission yeast                 CLQFFLRFRANGTSIYICENIDLNE-PFKVLNVDSELIPAV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1807 Tuberin
Alternative sequence 240 – 1807 Missing. In isoform 8.



Literature citations
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
Nellist M.; Burgers P.C.; van den Ouweland A.M.W.; Halley D.J.J.; Luider T.M.;
Biochem. Biophys. Res. Commun. 333:818-826(2005)
Cited for: PHOSPHORYLATION AT SER-1387; SER-1418 AND SER-1420; IDENTIFICATION BY MASS SPECTROMETRY; INTERACTION WITH HSPA1; HSPA8 AND TSC1; CHARACTERIZATION OF VARIANTS TSC2 TRP-611 AND GLN-611; 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; Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis.
Jones A.C.; Shyamsundar M.M.; Thomas M.W.; Maynard J.; Idziaszczyk S.A.; Tomkins S.; Sampson J.R.; Cheadle J.P.;
Am. J. Hum. Genet. 64:1305-1315(1999)
Cited for: VARIANTS TSC2 GLU-294; GLN-611; TRP-611; ASP-614; TYR-696; TRP-905; ARG-1497; ASN-1498; MET-1594; LYS-1643; SER-1651; LEU-1675; LYS-1681 AND PRO-1743; Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Choy Y.S.; Dabora S.L.; Hall F.; Ramesh V.; Niida Y.; Franz D.; Kasprzyk-Obara J.; Reeve M.P.; Kwiatkowski D.J.;
Ann. Hum. Genet. 63:383-391(1999)
Cited for: VARIANTS TSC2 ASN-258; PRO-261; PRO-361; ASP-407; SER-525; GLN-611 AND TRP-611; VARIANTS GLN-309; GLN-367 AND ARG-593; 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 TSC2 PHE-320; TRP-611; TRP-905; PRO-1744 AND 1746-HIS--ARG-1751 DEL; 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;
Disclaimer: 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.