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.
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
- Imamura T, Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family., Am. J. Hum. Genet. , 18(6), 584-93, 1966
- Mehrotra TN, Gupta SC, Sinha R, Haemoglobin norfolk in nepali gorkhas., Humangenetik , 27(4), 347-9, 1975
- 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
- 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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