IthaID: 2421



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 143 CAC>GAC [His>Asp] HGVS Name: HBD:c.430C>G
Hb Name: Hb A2-Leuven Protein Info: δ 143(H21) His>Asp

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64638
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
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: Belgian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Kieffer DM, Harteveld CL, Lee da H, Schiemsky T, Desmet KJ, Gillard P, Hemoglobin A2-Leuven (α2δ2 143(H21) His>Asp): a novel delta-chain variant potentially interfering in hemoglobin A1c measurement using cation exchange HPLC., Clin. Chem. Lab. Med. , 54(5), e161-3, 2016 PubMed
Created on 2014-05-29 16:09:17, Last reviewed on 2016-08-26 11:05:02 (Show full history)

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