Variant position: 390 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 GHSKILGETSLMRTLCGTPT YLAPEVLVSVGTAGYNRAVDC
Mouse GQSKILGETSLMRTLCGTPT YLAPEVLVSNGTAGYSRAVDC
Caenorhabditis elegans GMAK--NSVNRMKTRCGTPS YNAPEIVANEGVE-YTPKVDI
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
220 – 486 Protein kinase
368 – 394 T-loop/activation segment
379 – 379 Phosphoserine; by autocatalysis
383 – 383 Phosphothreonine; by autocatalysis
387 – 387 Phosphothreonine; by autocatalysis
75 – 392 Missing. In isoform 11.
107 – 487 Missing. In isoform 3.
148 – 543 Missing. In isoform 10.
166 – 543 Missing. In isoform 6.
204 – 543 Missing. In isoform 5.
235 – 543 Missing. In isoform 2.
290 – 543 Missing. In isoform 8.
340 – 543 Missing. In isoform 7.
379 – 379 S -> A. Abrogates autophosphorylation at Ser-379 and prevents ubiquitination.
383 – 383 T -> A. Loss of phosphorylation in response to ionizing radiation.
387 – 387 T -> A. Loss of phosphorylation in response to ionizing radiation.
388 – 390
A novel recurrent CHEK2 Y390C mutation identified in high-risk Chinese breast cancer patients impairs its activity and is associated with increased breast cancer risk.
Wang N.; Ding H.; Liu C.; Li X.; Wei L.; Yu J.; Liu M.; Ying M.; Gao W.; Jiang H.; Wang Y.;
Cited for: VARIANT BC CYS-390; CHARACTERIZATION OF VARIANT BC CYS-390; FUNCTION;
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