Sequence information
Variant position: 180 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:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human IEDHSGNGTFVNTELVGKGKR RPLNNNSEIALSLSRNKVFV
Mouse IEDHSGNGTFVNTELIGKGKR CPLSNNSEIALSLCRNKVFV
Caenorhabditis elegans LHDHSRNGTLVNQEMIGKGLS RELMNGDLISIGIPALIIFV
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
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
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;
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;
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.