IthaID: 1407

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 5 GAG>GGG HGVS Name: HBG2:c.17A>G
Hb Name: Hb F-Meinohama Protein Info: Gγ 5(A2) Glu>Gly

Context nucleotide sequence:

Protein sequence:

Also known as:


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-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: 42904
Size: 1 bp
Located at:
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Ohta Y, Saito S, Fujita S, Wilson JB, Lam H, Huisman TH, Hb F-Meinohama or alpha 2 gamma 2 (5 Glu replaced by Gly; 75 Ile; 136 Gly)., Hemoglobin, 5(6), 565-70, 1981
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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