IthaID: 1251

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 131 CAG>GAG HGVS Name: HBB:c.394C>G
Hb Name: Hb Camden Protein Info: β 131(H9) Gln>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71968
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African | Japanese
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
61Hb CamdenβD-10Dual Kit Program50.10.75Clinically normal. Elutes near, or at the position of Hb A1c.[PDF]
62Hb CamdenβVARIANT IIβ-thal Short Program44.51.36Clinically normal. Elutes near, or at the position of Hb A1c.[PDF]
63Hb CamdenβVARIANT IIDual Kit Program50.30.87Clinically normal. Elutes near, or at the position of Hb A1c.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Cohen PT, Yates A, Bellingham AJ, Huehns ER, Letter: Amino-acid substitution in the alpha 1 beta 1 intersubunit contact of haemoglobin-Camden beta 131 (h9) g1n leads to g1u., Nature, 243(5408), 467-8, 1973 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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