Sequence information
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:
GHSKILGETSLMRTLCGTPT
Y LAPEVLVSVGTAGYNRAVDC
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 GHSKILGETSLMRTLCGTPTY LAPEVLVSVGTAGYNRAVDC
Mouse GQSKILGETSLMRTLCGTPTY LAPEVLVSNGTAGYSRAVDC
Caenorhabditis elegans GMAK--NSVNRMKTRCGTPSY NAPEIVANEGVE-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
Chain
1 – 543
Serine/threonine-protein kinase Chk2
Domain
220 – 486
Protein kinase
Region
368 – 394
T-loop/activation segment
Modified residue
379 – 379
Phosphoserine; by autocatalysis
Modified residue
383 – 383
Phosphothreonine; by autocatalysis
Modified residue
387 – 387
Phosphothreonine; by autocatalysis
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.
Alternative sequence
290 – 543
Missing. In isoform 8.
Alternative sequence
340 – 543
Missing. In isoform 7.
Mutagenesis
379 – 379
S -> A. Abrogates autophosphorylation at Ser-379 and prevents ubiquitination.
Mutagenesis
383 – 383
T -> A. Loss of phosphorylation in response to ionizing radiation.
Mutagenesis
387 – 387
T -> A. Loss of phosphorylation in response to ionizing radiation.
Helix
388 – 390
Literature citations
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.;
Oncogene 34:5198-5205(2015)
Cited for: VARIANT BC CYS-390; CHARACTERIZATION OF VARIANT BC CYS-390; FUNCTION;
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.