Human | MCFD2 | 90411 | multiple coagulation factor deficiency 2 | phenotype & genotype analyses in 9 Indian patients with combined FV & FVIII deficiency; 2 MCFD2 gene mutations, c.149 + 5G > A splice defect & the p.E71fs accounted for >77% of patients screened; data suggest multiple hotspots of mutations in MCFD2 gene |
Human | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17 |
Human | USP9Y | 8287 | ubiquitin specific peptidase 9, Y-linked | molecular evolution of deletion hotspots |
Human | TRAF3 | 7187 | TNF receptor-associated factor 3 | the TRAF3-binding crevice has hot spots that promote molecular interactions driving specific signaling after contact with LTbetaR, CD40, or the downstream regulator TANK |
Human | TCF7L2 | 6934 | transcription factor 7-like 2 (T-cell specific, HMG-box) | identify selective beta-catenin binding hot spots of Tcf4, E-cadherin, and APC |
Human | SLC6A1 | 6529 | solute carrier family 6 (neurotransmitter transporter), member 1 | Owing to the low level of LD and presence of recombination hotspots, SLC6A1 may be an example of a problematic gene for association and haplotype tagging-based genetic studies |
Human | RPA1 | 6117 | replication protein A1, 70kDa | proposal that B-cell-specific AID-RPA complexes preferentially bind to ssDNA of small transcription bubbles at SHM 'hotspots', leading to AID-mediated deamination and RPA-mediated recruitment of DNA repair proteins |
Human | RAC2 | 5880 | ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) | Our results showed a low frequency of mutation and no hot spots of mutation in Rac2 gene in brain tumors, suggesting a decreased possibility of Rac2 in the brain tumorigenesis |
Human | IKBKB | 3551 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta | IKK beta is predominantly relocalized with Tax in Jurkat T cell perinuclear hot spots |
Human | HRAS | 3265 | Harvey rat sarcoma viral oncogene homolog | Analysus if 2502 patients with acute myeloid leukemia at diagnosis for NRAS mutations around hot spots at codons 12, 13, and 61 and correlation of the the results with cytomorphology, cytogenetics, other molecular markers, and prognosis |
Human | FGFR3 | 2261 | fibroblast growth factor receptor 3 | study showed that FGFR3 mutations appear to be common genetic alterations in multiple seborrheic keratoses with a varying interindividual mutation frequency but without specific intraindividual hot spots |
Human | DSPP | 1834 | dentin sialophosphoprotein | 2 mutation hotspots may be causative for multiple unrelated dentinogenesis imperfecta families with different clinical phenotypes |
Human | DMD | 1756 | dystrophin | Patients with double deletion mutations within the dystrophin gene have a milder phenotype than patients harboring single deletions at either major or minor hot spots of the gene |
Human | CTNNB1 | 1499 | catenin (cadherin-associated protein), beta 1, 88kDa | identify selective beta-catenin binding hot spots of Tcf4, E-cadherin, and APC |
Human | CHUK | 1147 | conserved helix-loop-helix ubiquitous kinase | IkappaB kinase (IKK) alpha but not IKK beta relocalizes to cellular hot spots in transformed Jurkat T cells |
Human | FOXL2 | 668 | forkhead box L2 | Novel mutations in the FOXL2 gene from Blepharophimosis syndrome patients have been found which confirm the existence of two previously described mutational hotspots Two mutational hotspots are described and are associated with blepharophimosis syndrome |
Human | APC | 324 | adenomatous polyposis coli | identify selective beta-catenin binding hot spots of Tcf4, E-cadherin, and APC |
Human | ADA | 100 | adenosine deaminase | ADA was analyzed by linkage disequilibrium and no correlation was found between hot spots of equal and unequal homologous recombination |