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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42345: Variant p.Arg2193Cys

Serine/threonine-protein kinase mTOR
Gene: MTOR
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Variant information Variant position: help 2193 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 Cysteine (C) at position 2193 (R2193C, p.Arg2193Cys). 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 polar (C) 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 FCORD2; somatic mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2549 The length of the canonical sequence.
Location on the sequence: help TLMGSNGHEFVFLLKGHEDL R QDERVMQLFGLVNTLLANDP 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                         TLMGSNGHEFVFLLKGHEDLRQDERVMQLFGLVNTLLANDP

Mouse                         TLMGSNGHEFVFLLKGHEDLRQDERVMQLFGLVNTLLANDP

Rat                           TLMGSNGHEFVFLLKGHEDLRQDERVMQLFGLVNTLLANDP
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 – 2549 Serine/threonine-protein kinase mTOR
Domain 2156 – 2469 PI3K/PI4K catalytic
Binding site 2185 – 2185
Binding site 2187 – 2187
Binding site 2190 – 2190
Modified residue 2173 – 2173 Phosphothreonine; by PKB/AKT1
Mutagenesis 2173 – 2173 T -> A. Increased mTOR kinase activity.



Literature citations
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
Lim J.S.; Kim W.I.; Kang H.C.; Kim S.H.; Park A.H.; Park E.K.; Cho Y.W.; Kim S.; Kim H.M.; Kim J.A.; Kim J.; Rhee H.; Kang S.G.; Kim H.D.; Kim D.; Kim D.S.; Lee J.H.;
Nat. Med. 21:395-400(2015)
Cited for: FUNCTION; INVOLVEMENT IN FCORD2; VARIANTS FCORD2 HIS-624; ASP-1450; ARG-1483; HIS-1709; LYS-1977; CYS-2193; PHE-2215; GLN-2427 AND PRO-2427; CHARACTERIZATION OF VARIANTS FCORD2 ARG-1483; GLN-2427 AND PRO-2427;
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.