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Details on Person NTHL1 Q90TER (NTHL1 Q90*) truncation mutant (Weren et al. 20...

Class:IdSummation:9630247
_displayNameNTHL1 Q90TER (NTHL1 Q90*) truncation mutant (Weren et al. 20...
_timestamp2018-11-30 18:58:36
created[InstanceEdit:9630245] Orlic-Milacic, Marija, 2018-11-30
literatureReference[LiteratureReference:9630239] Probing the activity of NTHL1 orthologs by targeting conserved amino acid residues
[LiteratureReference:9629985] A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
[LiteratureReference:9630214] Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review
modified[InstanceEdit:9630250] Orlic-Milacic, Marija, 2018-11-30
textNTHL1 Q90TER (NTHL1 Q90*) truncation mutant (Weren et al. 2015) lacks the DNA binding domain and the glycosylase domain and is thus predicted to be unable to recognize and bind damaged DNA, including damaged DNA containing dihydrouracil (DHU), although this has not been experimentally tested. NTHL1 Q287TER (NTHL1 Q287*) truncation mutant (Broderick et al. 2017) lacks a portion of the DNA binding domain, including glutamine residue Q287, important for substrate recognition (Robey-Bond et al. 2017) and is predicted to be unable to recognize and bind damaged DNA, including damaged DNA containing dihydrouracil (DHU), although this has not been experimentally tested.
(summation)[FailedReaction:9630045] Defective NTHL1 truncation mutants do not bind dihydrouracil (DHU) [Homo sapiens]
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