Sentence examples for mutation descriptions in from inspiring English sources
HNF4A mutation descriptions in the literature use the translation start codon reported by Chartier et al. in 1994 [ 45].
However, due to the unformatted mutation descriptions in the publications, it is a time-consuming and labor intensive task for the mutation examination and disease category.
It resulted in 79,865 unique combos of gene symbols and mutation descriptions in the dataset, such as "CHDC2_Insertion-Frameshift," "SPEN_Complex," and "SP1_Substitution-Missense".
HDAM extends the effect of standardized database, and makes mutation descriptions more standard in publications.
Particularly, the standard syntax of mutation description is critical for its sustainable utilization in both molecular effects and biological functions.
All 1170 mutations initially classified as activating in the two datasets (626 in SWISS-PROT and 544 in PMD) were examined by hand to call whether or not the mutation description was properly classified as activating.
Mutation description was provided by each French laboratory, coded and standardized according to the international nomenclature [See Additional file 1 for the distribution of mutations in the study].
In Table 3, the common genetic mutations of the SERPINA1 gene are listed using standard mutation description nomenclature alongside the traditional or legacy letter names.
After submission, a result list is displayed, including mutation ID, mutation description on genome level, mutation description on cDNA level, mutation description on protein level, mutation type, mutation effect, associated diseases and PubMed IDs.
Where flanking sequences were unavailable, the location of the mutation was inferred from either descriptions in the text, the corresponding R i value of the splice site, or relative coordinate numbering.
Some reports of FKRP mutations include descriptions of founder mutations in the European population (826C > A, L276I) and the Tunisian population (1364C > A, A455D) (18, 20, 21).
