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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O96017: Variant p.Arg137Gln

Serine/threonine-protein kinase Chk2
Gene: CHEK2
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Variant information Variant position: help 137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Arginine (R) to Glutamine (Q) at position 137 (R137Q, p.Arg137Gln). 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 large size and basic (R) to medium size and polar (Q) 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 Might influence susceptibility to breast cancer; does not cause protein abrogation in familial 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 137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 543 The length of the canonical sequence.
Location on the sequence: help RDKSCEYCFDEPLLKRTDKY R TYSKKHFRIFREVGPKNSYI 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                         R---DKSCEYCFDEPLLKRTDKYRTYSKKHFRIFREVGPKNSYI

Mouse                         R---DKSCEYCFDGPLLRRTDKYRTYSKKHFRIFREMGPKN

Caenorhabditis elegans        RGSDDAPTNFNFSQ-VAKDVGLYRFISKIQFSIDRDTETRR

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 – 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 131 – 147 KRTDKYRTYSKKHFRIF -> EFRSYSFYLP. In isoform 10.
Helix 135 – 138



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: VARIANT BC GLY-117; VARIANTS GLN-137 AND HIS-180; 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: VARIANT BC GLY-117; VARIANTS 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.