IthaID: 1225

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 123 ACC>AAC HGVS Name: HBB:c.371C>A
Hb Name: Hb Ernz Protein Info: β 123(H1) Thr>Asn

Context nucleotide sequence:

Protein sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71945
Size: 1 bp
Located at: β
Specific Location: Exon 3


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Groff P, Kalmes G, Golinska B, Miyazaki A, Riou J, Carte N, Promé D, Kister J, Galactéros F, Wajcman H, Hb Ernz [beta123(H1)Thr-->Asn] and Hb Renert [beta133(H11)Val-->Ala]: two new neutral variants revealed by reversed phase high performance liquid chromatography analysis., Hemoglobin, 24(4), 287-97, 2000 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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