IthaID: 3798



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 69 GGT>TGT [Gly>Cys] HGVS Name: HBB:c.208G>T
Hb Name: Hb Miguel Servet Protein Info: β 69(E13) Gly>Cys

Context nucleotide sequence:
GAAGGCTCATGGCAAGAAAGTGCTC [G>T] GTGCCTTTAGTGATGGCCTGGCTCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLCAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in an 8-month-old Spanish girl and her mother. The Hb variant detected by CE-HPLC newborn (BioRad), by CZE and by CE-HPLC-CE Tosoh G8-2 (Horiba), but no by CE-HPLC-CE β-thalassaemia short programme (BioRad).

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: N/A
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70932
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Recasens V, Montañés Á, Rodríguez-Vigil C, González Y, Hernández de Abajo G, Nieto JM, González Fernández B, González-Fernández FA, Villegas A, Benavente C, Ropero P, Why is the novel Hb Miguel Servet visualised by CE-HPLC newborn and not by the CE-HPLC β-thalassaemia programme?, J Clin Pathol, 74(3), 198-201, 2021 PubMed
Created on 2021-06-14 16:00:54, Last reviewed on 2021-06-14 16:30:00 (Show full history)

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