Sequence information
Variant position: 251 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:
CGEVKLAFERKTCKKVAIKI
I SKRKFAIGSAREADPALNVE
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 CGEVKLAFERKTCKKVAIKII SKRKFAIGSAREADPALNVE
Mouse CGEVKMAFERKTCQKVAIKII SKRRFALGSSREADTAPSVE
Caenorhabditis elegans FGKVLLGYKKSDRSVVAIKQL NT-QFSTRCSRAIAKTRDIR
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
220 – 486
Protein kinase
Binding site
249 – 249
ATP
Alternative sequence
75 – 392
Missing. In isoform 11.
Alternative sequence
107 – 487
Missing. In isoform 3.
Alternative sequence
148 – 543
Missing. In isoform 10.
Alternative sequence
166 – 543
Missing. In isoform 6.
Alternative sequence
204 – 543
Missing. In isoform 5.
Alternative sequence
235 – 543
Missing. In isoform 2.
Beta strand
244 – 251
Literature citations
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.