Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs25

We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene ( ): 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' u...

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Bibliographic Details
Published in:Hemoglobin 2023-11, Vol.47 (2), p.97-101
Main Authors: 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
Format: Article
Language:English
Subjects:
Anemia, Hemolytic - genetics
beta-Globins - chemistry
beta-Globins - genetics
Codon, Terminator
Exons
Female
Frameshift Mutation
Hemoglobins, Abnormal - chemistry
Hemoglobins, Abnormal - genetics
Humans
Mutation
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Summary:We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene ( ): 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 gene at amino acid position 158. This β-globin gene variant was identified in a woman with a long history of hemolytic anemia. We named this variant Hb Ryazan after the proband's city of origin.
ISSN:0363-0269
1532-432X
DOI:10.1080/03630269.2023.2202326