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:
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 IEDHSGNGTFVNTELVGKGK RRPLNNNSEIALSLSRNKVFV
Mouse IEDHSGNGTFVNTELIGKGK RCPLSNNSEIALSLCRNKVFV
Caenorhabditis elegans LHDHSRNGTLVNQEMIGKGL SRELMNGDLISIGIPALIIFV
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
1 – 543 Serine/threonine-protein kinase Chk2
1 – 221 Missing. In isoform 13.
75 – 392 Missing. In isoform 11.
107 – 487 Missing. In isoform 3.
107 – 197 Missing. In isoform 4.
148 – 543 Missing. In isoform 10.
166 – 543 Missing. In isoform 6.
180 – 182
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;
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.