IthaID: 1409

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 7 GAC>AAC HGVS Name: HBG2:c.22G>A
Hb Name: Hb F-Auckland Protein Info: Gγ 7(A4) Asp>Asn

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: 42909
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: USA, New Zealand
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Carrell RW, Owen MC, Anderson R, Berry E, Haemoglobin F auckland G gamma 7 Asp leads to Asn: further evidence for multiple genes for the gamma chain., Biochimica et biophysica acta, 365(2), 323-7, 1974 PubMed
  2. Chen SS, Wilson JB, Webber BB, Kutlar A, Huisman TH, Hb F-Auckland [alpha 2G gamma 2(7)(A4)Asp----Asn] observed in a Caucasian newborn from Alabama., Hemoglobin, 9(5), 531-3, 1985 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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