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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O96017: Variant p.Arg180Cys

Serine/threonine-protein kinase Chk2
Gene: CHEK2
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Variant information Variant position: help 180 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 Arginine (R) to Cysteine (C) at position 180 (R180C, p.Arg180Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 prostate cancer; 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 180 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 IEDHSGNGTFVNTELVGKGK R RPLNNNSEIALSLSRNKVFV 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                         IEDHSGNGTFVNTELVGKGKRRPLNNNSEIALSLSRNKVFV

Mouse                         IEDHSGNGTFVNTELIGKGKRCPLSNNSEIALSLCRNKVFV

Caenorhabditis elegans        LHDHSRNGTLVNQEMIGKGLSRELMNGDLISIGIPALIIFV
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
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 148 – 543 Missing. In isoform 10.
Alternative sequence 166 – 543 Missing. In isoform 6.
Beta strand 180 – 182



Literature citations
A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.
Liu Y.; Liao J.; Xu Y.; Chen W.; Liu D.; Ouyang T.; Li J.; Wang T.; Fan Z.; Fan T.; Lin B.; Xu X.; Xie Y.;
Hum. Mutat. 32:1000-1003(2011)
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO BC; VARIANTS CYS-180 AND TYR-371; CHARACTERIZATION OF VARIANT TYR-371; Mutations in CHEK2 associated with prostate cancer risk.
Dong X.; Wang L.; Taniguchi K.; Wang X.; Cunningham J.M.; McDonnell S.K.; Qian C.; Marks A.F.; Slager S.L.; Peterson B.J.; Smith D.I.; Cheville J.C.; Blute M.L.; Jacobsen S.J.; Schaid D.J.; Tindall D.J.; Thibodeau S.N.; Liu W.;
Am. J. Hum. Genet. 72:270-280(2003)
Cited for: VARIANTS PROSTATE CANCER LYS-64; PRO-145; ARG-167; CYS-180; HIS-180; CYS-181; HIS-181; LYS-239; PHE-251; HIS-318; PRO-323; CYS-327 AND LYS-476; VARIANT THR-157;
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.