Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon
Sign Up to like & getrecommendations! Published in 2022 at "IEEE Journal of Biomedical and Health Informatics"
DOI: 10.1109/jbhi.2022.3200966
Abstract: The effect of mutations has been traditionally predicted by studying what may happen due to the substitution of one amino acid for another one. This approach may be effective for mutations with impact in the… read more here.
Keywords: predicting effect; effect mutations; initiation codon; initiation ... See more keywords
Diamond‐Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14218
Abstract: Diamond‐Blackfan anaemia (DBA) is an inherited marrow failure disorder characterised by selective erythroid aplasia. Herein, we reported a case of DBA caused by a novel GATA1 gene mutation. The proband manifested normocytic normochromic anaemia, while… read more here.
Keywords: diamond blackfan; blackfan anaemia; initiation codon; gata1 ... See more keywords
Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of ANKH causes self‐limited familial infantile epilepsy
Sign Up to like & getrecommendations! Published in 2025 at "Epilepsia"
DOI: 10.1111/epi.18504
Abstract: Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by… read more here.
Keywords: 11c change; atg initiation; codon ankh; normal atg ... See more keywords
A novel LAMP2 initiation codon mutation causes Danon Disease: a case report
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2025.1699732
Abstract: Danon Disease (DD) is a rare X-linked inherited disorder caused by severe deficiency of lysosome-associated membrane protein-2 (LAMP-2), encoded by the LAMP2 gene. Characteristic clinical features include a triad of cardiomyopathy, skeletal myopathy and cognitive… read more here.
Keywords: initiation codon; danon disease; mutation; case report ... See more keywords
Virulence of herpes simplex virus 1 harbouring a UAG stop codon between the first and second initiation codon in the thymidine kinase gene.
Sign Up to like & getrecommendations! Published in 2021 at "Japanese journal of infectious diseases"
DOI: 10.7883/yoken.jjid.2021.674
Abstract: Herpes simplex virus 1 (HSV-1)-TK(8UAG) expresses a truncated thymidine kinase (TK) translated from the second initiation codon due to a stop UAG codon at the 8th position (counted from the first initiation codon). Here, we… read more here.
Keywords: initiation codon; hsv; codon; hsv 8uag ... See more keywords