A synonymous variant in scavenger receptor, class B, type I gene is associated with lower SR-BI protein expression and function. Atherosclerosis. 2010; 210:177-82.Constantineau J, Greason E, West M. et al. A synonymous variant in scavenger receptor, class B, type I gene is associated ...
Common synonymous variants are often disregarded. Determining the pathogenicity of synonymous variants may improve genetic diagnosis. We report a synonymous variant c.9861 C > T/p.(Gly3287=) in MYO15A in homozygosity or compound heterozygosity with another pathogenic or likely pathogenic MYO15A ...
Paul Hofman and colleagues show that a synonymous variant in IRGM, previously associated with risk of Crohn's disease, alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy. These findings implicate this synonymous polymor
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French familyAndreea Apetrei aArnaud Molin aNicolas Gruchy aManon Godin a...
Investigating the role of non-synonymous variant D67N of ADGRE2 in chronic myeloid leukemia doi:10.1186/s12885-024-13108-6Non-synonymousCMLBioinformatics toolsARMS PCRIn silicoanalysisChronic myeloid leukaemia (CML) is a type of blood cancer that begins in the hematopoietic stem cells. It is ...
When a substitution is by another codon for the same amino acid it is synonymous. Several variants are bona fide synonymous; however, when such a variant has a phenotype and functional effect, it is very seldom synonymous. Mechanisms of these variants have been previously described in [5,6,7...
(MM). Complete sequence analysis of thePRNPORF was performed for 118 cases and found five individuals with genetic variation. Two had a synonymous (silent) polymorphism at codon 202 (GAC-aspartic acid to GAT-aspartic acid; D202D), two had a non-synonymous change at codon 219 (GAG-glutamic...
Justin MillerBrigham Young University Provo UT USALauren McKinnonBrigham Young University Provo UT USAJosue D Gonzalez MurciaBrigham Young University Provo UT USAJohn KauweBrigham Young University Provo UT USAPerry G RidgeBrigham Young University Provo UT USA...
Synonymous variantThe interleukin-7 receptor (IL-7R) is primarily expressed on lymphoid cells and plays a crucial role in the development, proliferation, and survival of T cells. Autosomal recessive mutations that disrupt IL-7R伪 chain expression give rise to a severe combined immunodeficiency (SCID...
A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease. Nat Genet. 2011;43:242-5.Brest P, Lapaquette P, Souidi M, Lebrigand K, Cesaro A, Vouret-Craviari V et al.. A synonymous variant in IRGM alters a...