Department of Biochemistry, University of Cambridge, CB2 1GA, Cambridge, UK
The following somatic mutations have been reported to date: A130->S (Shichiri et al., 2002); deletion delta76-141 (Cahill et al., 1998); 140, transition of the splicing donor site (Cahill et al., 1998); S492->Y (Cahill et al., 1998); deletion delta827 (Ouyang et al., 2002); G250->N (Ohshima et al., 2000); S950->G (Imai et al., 1999); Y259->C (Hempen et al., 2003); H265->N (Hempen et al., 2003). It could not be determined whether the R209->Q substitution was the result of a somatic mutation or due to a rare polymorphism because constitutional DNA from the patient harbouring this mutation was not available (Sato et al., 2000). The clinical condition associated to each mutation is described in Table 1. The mapping of residues substitutions onto the BUB1 domains is depicted in Figure 3.
NCBI: 699 MIM: 602452 HGNC: 1148 Ensembl: ENSG00000169679
dbSNP: 699 ClinVar: 699 TCGA: ENSG00000169679 COSMIC: BUB1
Victor M Bolanos-Garcia ; Tom L Blundell
BUB1 (budding uninhibited by benzimidazoles 1 homolog (yeast))
Atlas Genet Cytogenet Oncol Haematol. 2011-07-01
Online version: http://atlasgeneticsoncology.org/gene/853/css/template-nav.css