IthaID: 569

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 57 GGC>GAC [Gly>Asp] HGVS Name: HBA1:c.173G>A | HBA2:c.173G>A
Hb Name: Hb J-Norfolk Protein Info: α2 or α1 57(E6) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Kagoshima , Hb Nishik-I , Hb Nishik-II , Hb Nishik-III

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34065 or 37869
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: Missense codons (Protein Structure)
Ethnic Origin: English, Italian, Japanese, Nepali
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Imamura T, Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family., Am. J. Hum. Genet. , 18(6), 584-93, 1966 PubMed
  2. Mehrotra TN, Gupta SC, Sinha R, Haemoglobin norfolk in nepali gorkhas., Humangenetik , 27(4), 347-9, 1975 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-09 17:45:00 (Show full history)

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