Sequence information
Variant position: 85 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:
TVSTQELYSIPEDQEPEDQE
P EEPTPAPWARLWALQDGFAN
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 TVSTQELYSIPEDQEPEDQEP EEPTPAPWARLWALQDGFAN
Mouse TVSTQELCSIPED-----QEP EEPGPAPWARLWALQDGFSN
Caenorhabditis elegans ---------MPVDEDLVVGES QCAASKPFAKLVGVRRGISS
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.
Type Positions Description
Chain
1 – 543
Serine/threonine-protein kinase Chk2
Modified residue
68 – 68
Phosphothreonine; by ATM and MAP3K20
Modified residue
73 – 73
Phosphoserine; by PLK3
Alternative sequence
1 – 221
Missing. In isoform 13.
Alternative sequence
75 – 392
Missing. In isoform 11.
Mutagenesis
68 – 68
T -> A. Loss of activation and phosphorylation.
Mutagenesis
73 – 73
S -> A. Impaired activation, phosphorylation by ATM and G2/M transition checkpoint.
Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-85; THR-157; MET-436; LYS-446; ILE-447; SER-448; LYS-501 AND VAL-512;
Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors.
Miller C.W.; Ikezoe T.; Krug U.; Hofmann W.K.; Tavor S.; Vegesna V.; Tsukasaki K.; Takeuchi S.; Koeffler H.P.;
Genes Chromosomes Cancer 33:17-21(2002)
Cited for: VARIANTS OSTEOSARCOMA SER-17 AND LEU-85;
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.
Shaag A.; Walsh T.; Renbaum P.; Kirchhoff T.; Nafa K.; Shiovitz S.; Mandell J.B.; Welcsh P.; Lee M.K.; Ellis N.; Offit K.; Levy-Lahad E.; King M.-C.;
Hum. Mol. Genet. 14:555-563(2005)
Cited for: VARIANTS LEU-85 AND PHE-428;
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.