IthaID: 1004

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 61 AAG>ATG HGVS Name: HBB:c.185A>T
Hb Name: Hb Bologna Protein Info: β 61(E5) Lys>Met

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70909
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Marinucci M, Giuliani A, Maffi D, Massa A, Giampaolo A, Mavilio F, Zannotti M, Tentori L, Hemoglobin bologna (alpha 2 beta 2 61 (E5) lys replaced by met). An abnormal human hemoglobin with low oxygen affinity., Biochimica et biophysica acta, 668(2), 209-15, 1981
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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