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The name of the mutation, del 69-70, or 69-70 del, or other similar notations, refers to the deletion of amino acid at position 69 to 70. The mutation is found in the Alpha variant, and could lead to "spike gene target failure" and result in false negative result in PCR virus test. [270]
The test matches RNA in three locations, and stopped working for the spike gene due to the HV 69–70 deletion—a deletion of the amino acids histidine and valine in positions 69 and 70, respectively [262] —in the spike protein of lineage B.1.1.7. This made preliminary identification easier because it could be better suspected which cases ...
Another cause of FSHD2 is mutation in DNMT3B (DNA methyltransferase 3B). [69] [70] Mutations in DNMT3B can also cause ICF syndrome. [55] As of 2020, early evidence indicates that a third cause of FSHD2 is mutation of the LRIF1 gene, which encodes the protein ligand-dependent nuclear receptor-interacting factor 1 (LRIF1). [71]
It has mutations in the gene encoding the SARS-CoV-2 spike protein [6] causing the substitutions T478K, P681R and L452R, [7] [8] which are known to affect transmissibility of the virus as well as whether it can be neutralised by antibodies for previously circulating variants of the COVID-19 virus. [9]
ZAP70 deficiency SCID is caused by a mutation is the ZAP70 gene, ... Selective T-cell defect; Zeta-associated-protein 70 deficiency at NIH's Office of Rare Diseases;
The mutations seen in the patient are rare but have been reported in some cases in other countries and most often during severe infections. One of the mutations was also seen in another severe ...
Alfred Blaschko, a private practice dermatologist from Berlin, first described and drew the patterns of the lines of Blaschko in 1901. He obtained his data by studying over 140 patients with various nevoid and acquired skin diseases and transposed the visible patterns the diseases followed onto dolls and statues, then compiled the patterns onto a composite schematic of the human body.
Human somatic variations are somatic mutations (mutations that occur in somatic cells) both at early stages of development and in adult cells. These variations can lead either to pathogenic phenotypes or not, even if their function in healthy conditions is not completely clear yet.