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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01116: Variant p.Ala146Val

GTPase KRas
Gene: KRAS
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Variant information Variant position: help 146 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 Alanine (A) to Valine (V) at position 146 (A146V, p.Ala146Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 OES; 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 146 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 DTKQAQDLARSYGIPFIETS A KTRQRVEDAFYTLVREIRQY 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                         DTKQAQDLARSYGIPFIETSAKTRQRVEDAFYTLVREIRQY

Mouse                         DTKQAQELARSYGIPFIETSAKTRQRVEDAFYTLVREIRQY

Rat                           DTKQAQELARSYGIPFIETSAKTRQRVEDAFYTLVREIRQY

Xenopus laevis                DTKQAQDLARSYGIPFIETSAKTRQGVDDAFYTLVREIRKH
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
Turn 146 – 148



Literature citations
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi S.; Boegershausen N.; Hove H.B.; Percin E.F.; Aslan D.; Dvorsky R.; Kayhan G.; Li Y.; Cursiefen C.; Tantcheva-Poor I.; Toft P.B.; Bartsch O.; Lissewski C.; Wieland I.; Jakubiczka S.; Wollnik B.; Ahmadian M.R.; Heindl L.M.; Zenker M.;
Clin. Genet. 90:334-342(2016)
Cited for: VARIANTS OES THR-146 AND VAL-146; INVOLVEMENT IN OES; Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho O.F.; Lopez-Moreno D.; Morales-Sanchez M.A.; Hofmann E.; Pacheco-Quito M.; Wieland I.; Cortes-Gonzalez V.; Villanueva-Mendoza C.; Zenker M.; Zenteno J.C.;
Mol. Genet. Genomic Med. 7:E625-E625(2019)
Cited for: VARIANT SFM ASP-12; VARIANTS OES THR-146 AND VAL-146; INVOLVEMENT IN SFM; INVOLVEMENT IN OES;
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.