Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01116: Variant p.Gly12Asp

GTPase KRas
Gene: KRAS
Feedback?
Variant information Variant position: help 12 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 Glycine (G) to Aspartate (D) at position 12 (G12D, p.Gly12Asp). 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 glycine (G) to medium size and acidic (D) 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 GASC, JMML and SFM; somatic mutation; also found in pancreatic carcinoma and lung carcinoma; also found in metastatic colorectal cancer. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 12 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 MTEYKLVVVGA G GVGKSALTIQLIQNHFVDEY 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                         MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEY

Mouse                         MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEY

Rat                           MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEY

Xenopus laevis                MTEYKLVVVGAVGVGKSALTIQLIQNHFVDEY
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
Initiator methionine 1 – 1 Removed; alternate
Chain 2 – 186 GTPase KRas, N-terminally processed
Binding site 10 – 18
Modified residue 1 – 1 N-acetylmethionine; in GTPase KRas; alternate
Modified residue 2 – 2 N-acetylthreonine; in GTPase KRas, N-terminally processed
Beta strand 12 – 14



Literature citations
Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma.
Motojima K.; Urano T.; Nagata Y.; Shiku H.; Tsurifune T.; Kanematsu T.;
Ann. Surg. 217:138-143(1993)
Cited for: VARIANTS PANCREATIC CARCINOMA ASP-12 AND VAL-12; Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases.
Lee K.H.; Lee J.S.; Suh C.; Kim S.W.; Kim S.B.; Lee J.H.; Lee M.S.; Park M.Y.; Sun H.S.; Kim S.H.;
Cancer 75:2794-2801(1995)
Cited for: VARIANTS GASC SER-12 AND ASP-12; Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features.
Tam I.Y.S.; Chung L.P.; Suen W.S.; Wang E.; Wong M.C.M.; Ho K.K.; Lam W.K.; Chiu S.W.; Girard L.; Minna J.D.; Gazdar A.F.; Wong M.P.;
Clin. Cancer Res. 12:1647-1653(2006)
Cited for: VARIANTS LUNG CARCINOMA CYS-12; ASP-12; SER-12; VAL-12 AND HIS-61; The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-12; ASP-12; SER-12; VAL-12; ASP-13; ARG-61; ASN-117 AND THR-146; Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations.
Matsuda K.; Shimada A.; Yoshida N.; Ogawa A.; Watanabe A.; Yajima S.; Iizuka S.; Koike K.; Yanai F.; Kawasaki K.; Yanagimachi M.; Kikuchi A.; Ohtsuka Y.; Hidaka E.; Yamauchi K.; Tanaka M.; Yanagisawa R.; Nakazawa Y.; Shiohara M.; Manabe A.; Kojima S.; Koike K.;
Blood 109:5477-5480(2007)
Cited for: VARIANTS JMML ASP-12; SER-12 AND ASP-13; 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; KRAS A146 mutations are associated with distinct clinical behavior in patients with colorectal liver metastases.
van 't Erve I.; Wesdorp N.J.; Medina J.E.; Ferreira L.; Leal A.; Huiskens J.; Bolhuis K.; van Waesberghe J.T.M.; Swijnenburg R.J.; van den Broek D.; Velculescu V.E.; Kazemier G.; Punt C.J.A.; Meijer G.A.; Fijneman R.J.A.;
JCO Precis. Oncol. 5:0-0(2021)
Cited for: VARIANTS ALA-12; ASP-12; CYS-12; VAL-12; ASN-117 AND THR-146;
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.