Surprisingly, no phenotypic differences were seen between mutations causing deletion or truncation of PLS3 protein or missense or in frame insertion mutations resulting in mutated PLS3 protein, most likely because all types of mutations cause a loss of function of PLS3 [108, 128,129,130,131, ...
Disruptive_inframe_insertion 12. Disruptive_inframe_deletion. Note that this consisted of all SNPEff roles with a HIGH impact modifier, plus the addition of the disruptive insertion/deletion Non-synonymous Variants: Variants identified as a LOF variant above, or had one of the following roles: 1...
mutation, amplification and gene fusion ofPDGFRA, alterations in theTP53and RB/cell cycle pathways, and activating missense mutation inACVR1(Fig.4). The great majority of PDOXs and cell lines maintained signature mutations and copy-number abnormalities (CNAs) found in the matched patient tumors in...
We determined that RNA levels of genes involved in the mating process are increased in UC1, and that the T-DNA insertion site plays a role in the strain's ability to form empty cleistothecia. Using UC1 as a tool to study cleistothecia production, we determined that PKC1 RNA levels ...
Moreover, approximately 90 % of HER2 mutations are represented by in-frame non-frameshift insertions in exon 20 of the tyrosine kinase domain (ex20ins), and the predominant variant is a recurrent 12 base-pair insertion that leads to the A775_G776insYVMA mutation (YVMAins), followed by G...
frameshift, stop gained, initiator codon, inframe insertion or deletion, splice and missense with deleterious (SIFT) or damaging (Polyphen) prediction; synonymous, intronic, 5′- and 3′- UTR and missense variants with tolerated (SIFT) and benign (Polyphen) prediction were filtered out, unless ...
(Fig.6a). Since frozen material from the patient tumor that was used to generate E98 is unavailable, we could unfortunately not obtain genomic DNA and cDNA of sufficient quality to confirm the presence of the mutation in the originating tumor. We did however perform immunohistochemistry on ...
αA-crystallin is highly expressed in the embryonic, neonatal and adult mouse lens. Previously, we identified two novel distal control regions, DCR1 and DCR3. DCR1 was required for transgenic expression of enhanced green fluorescent protein, EGFP, in len
In most cases, however, fragment length variability between individuals is a result of insertion or deletion of DNA sequences outside of the restriction sites, caused by natural recombination and replication. RFLP analysis is...
Recurrent heterozygous in-frame insertion mutations in the Cullin RING ubiquitin Ligase 3 (CRL3) adaptor KBTBD4 are reported in children with non-WNT/non-SHH medulloblastoma [5], as well as in children and adults with Pineal Parenchymal Tumours of Intermediate Differentiation (PPTID) [6]. Recen...