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UniProtKB/Swiss-Prot P01116: Variant p.Gly13Asp

GTPase KRas
Gene: KRAS
Variant information

Variant position:  13
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Aspartate (D) at position 13 (G13D, p.Gly13Asp).
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:  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:  -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:  In GASC, JMML and OES; also found in a breast carcinoma cell line; somatic mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  13
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  189
The length of the canonical sequence.

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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.





Sequence annotation in neighborhood:  
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.

Chain 1 – 186 GTPase KRas
Initiator methionine 1 – 1 Removed; alternate
Chain 2 – 186 GTPase KRas, N-terminally processed
Nucleotide binding 10 – 18 GTP
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

The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231.
Kozma S.C.; Bogaard M.E.; Buser K.; Saurer S.M.; Bos J.L.; Groner B.; Hynes N.E.;
Nucleic Acids Res. 15:5963-5971(1987)

BRAF and KRAS mutations in stomach cancer.
Lee S.H.; Lee J.W.; Soung Y.H.; Kim H.S.; Park W.S.; Kim S.Y.; Lee J.H.; Park J.Y.; Cho Y.G.; Kim C.J.; Nam S.W.; Kim S.H.; Lee J.Y.; Yoo N.J.;
Oncogene 22:6942-6945(2003)
Cited for: VARIANTS GASC ASN-5; VAL-12; ASP-13 AND THR-59;

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;

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
Peacock J.D.; Dykema K.J.; Toriello H.V.; Mooney M.R.; Scholten D.J. II; Winn M.E.; Borgman A.; Duesbery N.S.; Hiemenga J.A.; Liu C.; Campbell S.; Nickoloff B.P.; Williams B.O.; Steensma M.;
Am. J. Med. Genet. A 167:1429-1435(2015)

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.