IthaID: 1008

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 63 CAT>AAT HGVS Name: HBB:c.190C>A
Hb Name: Hb Haná Protein Info: β 63(E7) His>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70914
Size: 1 bp
Located at: β
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Czech
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Divoký V, Luhový M, Divoká M, Melichárková R, Pospísilová , Indrák K, [Hemoglobin Haná or alpha 2 beta 2 63 (E7) His-Asn: a new unstable hemoglobin variant with a paradoxically different clinical manifestations in smokers and non-smokers in the same family], Vnitr̆ní lékar̆ství, 43(5), 267-72, 1997 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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