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UniProtKB/Swiss-Prot O96017: Variant p.Arg117Gly

Serine/threonine-protein kinase Chk2
Gene: CHEK2
Variant information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glycine (G) at position 117 (R117G, p.Arg117Gly).
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 large size and basic (R) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

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



Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  543
The length of the canonical sequence.

Location on the sequence:   WALQDGFANLECVNDNYWFG  R DKSCEYCFDEPLLKRTDKYR
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.

Human                         WALQDGFANLECVNDNYWFGR---DKSCEYCFDEPLLKRTDKYR

Mouse                         WALQDGFSNLDCVNDNYWFGR---DKSCEYCFDGPLLRRTD

Caenorhabditis elegans        VGVRRGISSIDLADDHFVCGRGSDDAPTNFNFSQ-VAKDVG

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.

TypePositionsDescription
Chain 1 – 543 Serine/threonine-protein kinase Chk2
Domain 113 – 175 FHA
Alternative sequence 1 – 221 Missing. In isoform 13.
Alternative sequence 75 – 392 Missing. In isoform 11.
Alternative sequence 107 – 487 Missing. In isoform 3.
Alternative sequence 107 – 197 Missing. In isoform 4.
Alternative sequence 107 – 107 E -> ETESGHVTQSDLELLLSSDPPASASQSAGIRGVRHHPRPVCSLK. In isoform 9.
Beta strand 110 – 118


Literature citations

CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.
Sodha N.; Bullock S.; Taylor R.; Mitchell G.; Guertl-Lackner B.; Williams R.D.; Bevan S.; Bishop K.; McGuire S.; Houlston R.S.; Eeles R.A.;
Br. J. Cancer 87:1445-1448(2002)
Cited for: VARIANTS GLY-117; GLN-137 AND HIS-180;

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.
Schutte M.; Seal S.; Barfoot R.; Meijers-Heijboer H.; Wasielewski M.; Evans D.G.; Eccles D.; Meijers C.; Lohman F.; Klijn J.; van den Ouweland A.; Brady A.; Cole T.; Collins A.; Cox H.; Donaldson A.; Eeles R.; Evans G.; Gregory H.; Gray J.; Houlston R.; Lalloo F.; Lucassen A.; Mackay J.; Mitchell G.; Morrison P.; Murday V.; Narod S.; Patterson J.; Peretz T.; Phelan C.M.; Rogers M.; Schofield A.; Tonin P.; Weber B.; Weber W.; Futreal P.A.; Nathanson K.L.; Weber B.L.; Easton D.F.; Stratton M.R.; Rahman N.;
Am. J. Hum. Genet. 72:1023-1028(2003)
Cited for: VARIANTS GLY-117; TRP-145 AND THR-157;

Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype.
van Puijenbroek M.; van Asperen C.J.; van Mil A.; Devilee P.; van Wezel T.; Morreau H.;
J. Pathol. 206:198-204(2005)
Cited for: VARIANTS GLY-117; GLN-137; TRP-145; THR-157 AND HIS-180;

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.