IthaID: 2421



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Belgian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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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