Article
Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.
Hemoglobin - 1 Nov 2023
Demidova Ekaterina, Salomashkina Valentina, Selivanova Daria, Litvin Evgeny, Karamyan Natalia, Mann Svetlana, Dvirnyk Valentina, Maryina Salia, Petrova Natal'ya, Gorgidze Lana, Peredel'skaya Anastasiya, Tsvetaeva Nina, Smetanina Nataliya, Surin Vadim
Abstract excerpt
We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene (HBB): NM_000518:c.396delG. This variant causes an emergence of alternative amino acid sequence starting at codon 133 and a new stop codon formed in the 3' untranslated region (3'UTR) of the HBB gene at amino acid position 158. This β-globin gene variant was identified in a...
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