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

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
  2. Mehrotra TN, Gupta SC, Sinha R, Haemoglobin norfolk in nepali gorkhas., Humangenetik , 27(4), 347-9, 1975
  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
  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
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 11:13:34 (Show full history)

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