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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01116: Variant p.Thr58Ile

GTPase KRas
Gene: KRAS
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Variant information Variant position: help 58 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 Threonine (T) to Isoleucine (I) at position 58 (T58I, p.Thr58Ile). 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 medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 NS3; affects activity and impairs responsiveness to GTPase activating proteins; exhibits only minor alterations in its in vitro biochemical behavior compared to wild-type protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 58 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 189 The length of the canonical sequence.
Location on the sequence: help DSYRKQVVIDGETCLLDILD T AGQEEYSAMRDQYMRTGEGF 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                         DSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGF

Mouse                         DSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGF

Rat                           DSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGF

Xenopus laevis                DSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGF
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 – 186 GTPase KRas
Chain 2 – 186 GTPase KRas, N-terminally processed



Literature citations
Germline KRAS mutations cause Noonan syndrome.
Schubbert S.; Zenker M.; Rowe S.L.; Boell S.; Klein C.; Bollag G.; van der Burgt I.; Musante L.; Kalscheuer V.; Wehner L.-E.; Nguyen H.; West B.; Zhang K.Y.J.; Sistermans E.; Rauch A.; Niemeyer C.M.; Shannon K.; Kratz C.P.;
Nat. Genet. 38:331-336(2006)
Cited for: VARIANTS NS3 ILE-14 AND ILE-58; VARIANT CFC2 ARG-34; CHARACTERIZATION OF VARIANTS NS3 ILE-14 AND ILE-58; Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
Kratz C.P.; Zampino G.; Kriek M.; Kant S.G.; Leoni C.; Pantaleoni F.; Oudesluys-Murphy A.M.; Di Rocco C.; Kloska S.P.; Tartaglia M.; Zenker M.;
Am. J. Med. Genet. A 149:1036-1040(2009)
Cited for: VARIANTS NS3 ILE-58 AND SER-60; Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Gremer L.; Merbitz-Zahradnik T.; Dvorsky R.; Cirstea I.C.; Kratz C.P.; Zenker M.; Wittinghofer A.; Ahmadian M.R.;
Hum. Mutat. 32:33-43(2011)
Cited for: CHARACTERIZATION OF VARIANTS NS3 ILE-14; ARG-22; LEU-34; ILE-58 AND VAL-153 (ISOFORM 2); CHARACTERIZATION OF VARIANTS CFC2 GLU-22; ARG-34 AND ARG-60; CHARACTERIZATION OF VARIANTS ASN-5 AND LEU-156 (ISOFORM 2); FUNCTION; CATALYTIC ACTIVITY;
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.