IthaID: 3317



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 47 GAT>AAT [Asp>Asn] HGVS Name: HBD:c.142G>A
Hb Name: Hb A2-Lampang Protein Info: δ 47(CD6) Asp>Asn

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGNLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Comments: The replacement of Asn for Asp at this position in the Hb A2-Lampang has no deleterious effect and can be considered as a clinically and hematologically silent variant.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63452
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: Thai
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Panyasai S, Fucharoen G, Fucharoen S, Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening., Clin. Chim. Acta , 438(0), 226-30, 2015 PubMed
Created on 2018-02-14 19:53:10, Last reviewed on (Show full history)

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