Silent mutation: A silent mutation is a single nucleotide substitution that results in the translation of the same amino acid. Thus, protein function is not affected.Met: methioninePro: prolineThr: threonineArg: arginine Image by Lecturio. Missense mutation Occurs when a change in a single base...
Human Geneticsvan den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP: Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an ...
Mutation of a Single Conserved Tryptophan in Multidrug Resistance Protein 1 (MRP1/ABCC1) Results in Loss of Drug Resistance and Selective Loss of Organic A... Multidrug resistance protein 1 (MRP1/ABCC1) belongs to the ATP-binding cassette transporter superfamily and is capable of conferring ...
When a piece of a chromosome breaks off, it is not always lost completely. Sometimes a piece of chromosome will attach onto a different, non-homologous chromosomethat has also lost a piece. This type of chromosome mutation is called translocation. Even though the gene is not completely lost, ...
Mutation analysis in the mouse has so far established a clear proneural activity for only a few genes, namely Mash1, Ngn1 and Ngn2, and possibly Math1 and Math5. However, these genes do not account for the selection of all neural progenitors, so it is likely that other genes with prone...
A G to T mutation has been observed at the third position of codon 249 of the p53 tumor-suppressor gene in over 50/100 of the hepa- tocellular carcinoma cases associated with high exposure to afla- toxin B_1 (AFB_1). Hypotheses have been put forth that AFB_1, in concert with hepati...
We found a splice-site mutation in a single individual, and we determined that, in six individuals, the mRNA from one COL5A1 allele either was not expressed or was very unstable. We identified small insertions or deletions in five of these cell strains, but we could not identify the ...
In contrast, the second subtype of lamina-associated chromatin is relatively gene dense, accessible, dynamic across development, and positioned adjacent to the lamina. Most genes gain or lose LAMIN B1 occupancy consistent with cell types along developmental trajectories; however, we also identify ...
A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairmen... G Feng,W Luo,X Li,.....
7. Atlasof Genetics and Cytogenetics in Oncology and Haematolog Types:disease、DNA Location:France Citation:1188 z-index:66.00 8. miR2Disease-miR-Disease Types:disease、RNA Location:China Citation:537 z-index:59.67 9. PlasmoDB-Plasmodium Genomics Resourse ...