Sequence information
Variant position: 145 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:
FDEPLLKRTDKYRTYSKKHF
R IFREVGPKNSYIAYIEDHSG
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 FDEPLLKRTDKYRTYSKKHFR IFREVGPKNSYIAYIEDHSG
Mouse FDGPLLRRTDKYRTYSKKHFR IFREMGPKNCYIVYIEDHSG
Caenorhabditis elegans FSQ-VAKDVGLYRFISKIQFS IDRDTETRR---IYLHDHSR
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
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.
Beta strand
144 – 150
Literature citations
The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis.
Falck J.; Mailand N.; Syljuaasen R.G.; Bartek J.; Lukas J.;
Nature 410:842-847(2001)
Cited for: FUNCTION IN INTRA S-PHASE CHECKPOINT; FUNCTION IN PHOSPHORYLATION OF CDC25A; INTERACTION WITH CDC25A; MUTAGENESIS OF ASP-347; CHARACTERIZATION OF VARIANT COLON CANCER TRP-145; CHARACTERIZATION OF VARIANT THR-157;
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Bell D.W.; Varley J.M.; Szydlo T.E.; Kang D.H.; Wahrer D.C.R.; Shannon K.E.; Lubratovich M.; Versalis S.J.; Isselbacher K.J.; Fraumeni J.F. Jr.; Birch J.M.; Li F.P.; Garber J.E.; Haber D.A.;
Science 286:2528-2531(1999)
Cited for: VARIANT THR-157; VARIANT COLON CANCER TRP-145;
Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.
Lee S.B.; Kim S.H.; Bell D.W.; Wahrer D.C.R.; Schiripo T.A.; Jorczak M.M.; Sgroi D.C.; Garber J.E.; Li F.P.; Nichols K.E.; Varley J.M.; Godwin A.K.; Shannon K.M.; Harlow E.; Haber D.A.;
Cancer Res. 61:8062-8067(2001)
Cited for: VARIANT LFS2 TRP-145;
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: VARIANT BC GLY-117; VARIANTS TRP-145 AND THR-157;
Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women.
Friedrichsen D.M.; Malone K.E.; Doody D.R.; Daling J.R.; Ostrander E.A.;
Breast Cancer Res. 6:R629-R635(2004)
Cited for: VARIANTS 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: 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.