WebWe performed a mutational analysis for ATM in CML using genomic DNA from 14 CML cell lines and 59 CML patients in BC. No clearly deleterious nucleotide changes were … WebJan 1, 2004 · The ATM kinase encoded by ATM containing the SNP 4138C>T (amino acid change H1380Y) in LCL-HD4 exhibited normal p53 phosphorylation activity (data not …
Mutation overview page ADAM11 - p.S766= ( Substitution
WebAug 1, 2015 · A mutation of ATM (H1380Y) was reported in a chronic myeloid leukemia (CML) cell line 50 and in a pediatric patient with Hodgkin disease. 30 Melo et al 29 … WebApr 19, 2024 · ATM:ATM serine/threonine kinase [ Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 11q22.3 Genomic location: Chr11: … gough kelly leeds
Detection of Rare Variant of SS18-SSX1 Fusion Gene and …
WebWe therefore sought to identify SNPs of the ATM gene in pediatric Hodgkin disease (HD) and to analyze ATM function in cells from patients with these SNPs. We have identified SNPs of the ATM gene in 5 of 14 children (S1455R, n = 1; H1380Y, n = 1; N1650S, n = 2; and I709I, n = 1). One patient had nonsense-associated altered splicing of the ATM gene. WebGene: ATM Variant: H1380Y: Impact List: missense: Protein Effect: loss of function - predicted: Gene Variant Descriptions: ATM H1380Y lies within the c-Abl binding domain of the Atm protein (PMID: 12969974).H1380Y results in defective c-Abl activation upon irradiation in cultured cells (PMID: 12969974), and therefore, is predicted to lead to a loss … WebSep 11, 2003 · Europe PMC is an archive of life sciences journal literature. Search life-sciences literature (Over 39 million articles, preprints and more) gough lackford