IthaID: 569



Names and Sequences

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

Context nucleotide sequence:
AGCCACGGCTCTGCCCAGGTTAAGG [G/A] CCACGGCAAGAAGGTGGCCGACGCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKDHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

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

Other details

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

In silico pathogenicity prediction

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
  3. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
  4. Nair SB, Athalye AS, Madon PF, Das PS, Parikh FR, Hematological and Molecular Findings in the First Case of Hb J-Norfolk [HBA2: c.173G>A (or HBA1] in an Indian Patient., Hemoglobin, 42(0), 333-335, 2018 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 11:13:34 (Show full history)

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