Variant position: 137 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 R---DKSCEYCFDEPLLKRTDKY RTYSKKHFRIFREVGPKNSYI
Mouse R---DKSCEYCFDGPLLRRTDKY RTYSKKHFRIFREMGPKN
Caenorhabditis elegans RGSDDAPTNFNFSQ-VAKDVGLY RFISKIQFSIDRDTETRR
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
113 – 175 FHA
1 – 221 Missing. In isoform 13.
75 – 392 Missing. In isoform 11.
107 – 487 Missing. In isoform 3.
107 – 197 Missing. In isoform 4.
131 – 147 KRTDKYRTYSKKHFRIF -> EFRSYSFYLP. In isoform 10.
135 – 138
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;
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;
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.