IthaID: 2309

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 81 CTC>TTC [Leu>Phe] HGVS Name: HBD:c.244C>T
Hb Name: Hb A2-St. George's Protein Info: δ 81(EF5) Leu>Phe

Context nucleotide sequence:

Protein sequence:

Also known as: Hb A2-Saint-Denis

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63554
Size: 1 bp
Located at: δ
Specific Location: Exon 2


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: Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Khalil MS, Marouf S, Element D, Timbs A, Gallienne A, Schuh A, Old JM, Henderson S, A Study of δ-Globin Gene Mutations in the UK Population: Identification of Three Novel Variants and Development of a Novel DNA Test for Hb A'2., Hemoglobin , 38(3), 201-6, 2014 PubMed
Created on 2014-01-09 09:17:51, Last reviewed on 2014-06-05 13:14:02 (Show full history)

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