IthaID: 1279

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 139 AAT>TAT [Asn>Tyr]; CD 138 (-GCT) [-Ala] HGVS Name: HBB:c.[418A>T;415_417delGCT]
Hb Name: Hb Nijkerk Protein Info: β 139(H17) Asn>Tyr AND β 138(H16) Ala->0

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Nykerk


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71992
Size: 1 bp
Located at: β
Specific Location: Exon 3


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. van den Berg HM, Bruin MC, Batelaan D, van Delft P, van Zwieten R, Roos D, Harteveld CL, Bernini LF, Giordano PC, Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl., Hemoglobin , 23(2), 135-44, 1999 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-15 19:09:44 (Show full history)

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