IthaID: 2989


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 143 CAC>CGC [His>Arg] HGVS Name: HBD:c.431A>G
Hb Name: Hb A2-Leuven II Protein Info: δ 143(H21) His>Arg

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALARKYH

Also known as: Hb A2-Abruzzo

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64639
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: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Bouva MJ, Harteveld CL, van Delft P, Giordano PC, Known and new delta globin gene mutations and their diagnostic significance., Haematologica, 91(1), 129-32, 2006
Created on 2016-08-23 17:16:56, Last reviewed on 2018-02-15 18:53:44 (Show full history)

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