IthaID: 708

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 112 CAC>GAC [His>Asp] HGVS Name: HBA1:c.337C>G | HBA2:c.337C>G
Hb Name: Hb Hopkins-II Protein Info: α2 or α1 112(G19) His>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34371 or 38182
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

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


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ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
277Hb Hopkins-IIα1 or α2D-10Dual Kit Program18.31.41heterozygote[PDF]
347Hb Hopkins-IIα1 or α2D-10Dual Kit Program21.41.39Heterozygote.[PDF]
280Hb Hopkins-IIα1 or α2VARIANT IIDual Kit Program19.51.5heterozygote[PDF]
350Hb Hopkins-IIα1 or α2VARIANT IIDual Kit Program22.61.49Heterozygote.[PDF]
278Hb Hopkins-IIα1 or α2VARIANTβ-thal Short Program19.31.5heterozygote[PDF]
348Hb Hopkins-IIα1 or α2VARIANTβ-thal Short Program12.51.46Heterozygote.[PDF]
279Hb Hopkins-IIα1 or α2VARIANT IIβ-thal Short Program191.51heterozygote[PDF]
349Hb Hopkins-IIα1 or α2VARIANT IIβ-thal Short Program10.31.6Heterozygote.[PDF]

Sequence Viewer

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Publications / Origin

  1. Charache S, Ostertag W, von Ehrenstein G, Clinical studies and physiological properties of Hopkins-2 haemoglobin., Nature New Biol. , 234(51), 248-51, 1971 PubMed
  2. Clegg JB, Charache S, The structure of hemoglobin Hopkins-2., Hemoglobin , 2(1), 85-8, 1978 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 16:50:13 (Show full history)

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