IthaID: 3392



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 80 AAC>AGC [Asn>Ser] HGVS Name: HBB:c.242A>G
Hb Name: Hb Moncloa Protein Info: β80(EF4)Asn>Ser

Context nucleotide sequence:
AGTGATGGCCTGGCTCACCTGGACA [A/G] CCTCAAGGGCACCTTTGCCACACTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDSLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Found as a heterozygote during routine health check. Perceived to be haematologically silent. Its chromatographic profile suggests a probable interference during the monitoring of glycated haemoglobin (HbA1c).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70966
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Rumanian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Torrejón MJ, Ortíz-Cabrera NV, M Nieto J, González Fernández FA, Villegas A, Martínez R, Ropero P, Hb Moncloa: A new variant of haemoglobin that interferes in the quantification of Hb A1c., Clin. Biochem., 50(9), 521-524, 2017 PubMed
Created on 2019-04-08 15:12:01, Last reviewed on (Show full history)

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