IthaID: 951

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 43 GAG>AAG [Glu>Lys] HGVS Name: HBB:c.130G>A
Hb Name: Hb Hornchurch Protein Info: β 43(CD2) Glu>Lys

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


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: 70854
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, Kaur P, Kozak EA, Lum S, Alter DN, Five variants of the beta-globin gene without clinical or hematological effects: Hb Maryland [beta 47(CD6)Asp-->His], Hb Kent [beta 37(C3)Trp-->Cys], Hb Visayan [beta 136(H14)Gly-->Cys], Hb Cutlerville [beta 138(H16)Ala-->Val] and Hb Hornchurch [beta 43(CD2)Glu-->Lys]., Hemoglobin , 32(5), 471-7, 2008 PubMed
  2. Zhang L, Lin M, Yang LY, Zheng L, Wang Q, First detection of Hb Hornchurch (beta43(CD2) Glu-Lys) in a Chinese., Blood Cells Mol. Dis. , 44(4), 217-8, 2010 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 17:16:12 (Show full history)

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