Sentence examples for mutations identified to date from inspiring English sources
Although individually rare, cumulatively the structural mutations identified to date involve approximately 5% of cases of schizophrenia.
37 SLOS is fairly common (predicted incidence of ≈1 10,000), 8 with over 120 different DHCR7 mutations identified to date.
Consistent with a requirement for APTX activity for neurological function, most of the mutations identified to date in AOA1 are located within or in very close proximity to the HIT domain.
In our series of 69 human neuroblastomas, amino acid sequence alterations were identified in only two (one in a MYCN amplified cell line, and one in a MYCN amplified INSS stage 3 tumor), albeit in a survey restricted to domain "hotspots" (C2, helical, kinase) that harbor >80% of mutations identified to date [ 22].
The mutations identified to date may be hypomorphs that result in identifiable abnormalities in some EpCAM-expressing epithelia (eg intestinal epithelia and perhaps ocular conjunctiva), but not others.
The latter represent the majority of disease-linked mutations identified to date.
Of note, the c.2270 A>C p.H757P substitution, which showed the highest PSIC score (3.488) by PolyPhen, is the first mutation identified to date that fall in the exon 20, only 10 amino acids prior to the end of the protein.
Of the as1 alleles that introduce point mutations [ 12],[ 37], as1-22 (formerly known as bibb-5) [ 12] represents the only missense mutation identified to date.
No mutations have been identified to date at Arg679 in this or other studies [ 42], Van der Neut Kolfschoten, 2005 (personal communication).
Mutations in both NPHS2 (podocin) alleles also cause steroid resistant FSGS [ 6] and are a much more common cause of FSGS than mutations in other genes identified to date [ 7].
Few secondary mutations other than T790M have been identified to date and include D761Y, L747S, and T854A; these non-T790M mutations are thought to occur in <5% of EGFR-mutated TKI-resistant patients 43.
