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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49815: Variant p.Arg1743Pro

Tuberin
Gene: TSC2
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Variant information Variant position: help 1743 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 Proline (P) at position 1743 (R1743P, p.Arg1743Pro). 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 medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; Abolishes GAP activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1743 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 SQVHHSRSNPTDIYPSKWIA R LRHIKRLRQRICEEAAYSNP 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                         SQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNP

Mouse                         SQVHHSRSNPTDIYPSKWIARLRHIKRLRQRIREEVHYSNP

Rat                           SQVHHRRSNPTDIYPSKWIARLRHIKRLRQRIREEVHYSNP

Fission yeast                 SHIYHRSAGD---YVHIWAERLRQLKRLREKFQASVL----
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
Domain 1531 – 1758 Rap-GAP
Alternative sequence 240 – 1807 Missing. In isoform 8.
Mutagenesis 1745 – 1745 R -> Q. Abolishes GAP activity.
Mutagenesis 1749 – 1749 R -> A. Decreased GTPase-activating protein activity.



Literature citations
Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.
Li Y.; Inoki K.; Guan K.-L.;
Mol. Cell. Biol. 24:7965-7975(2004)
Cited for: FUNCTION; MUTAGENESIS OF 1637-LYS--ARG-1639; ARG-1745 AND 1749-ARG--ARG-1751; CHARACTERIZATION OF VARIANTS TSC2 LYS-1643; SER-1651; LYS-1681 AND PRO-1743; 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;
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.