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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Imamura T, Hemoglobin Kagoshima: an example of hemoglobin Norfolk in a Japanese family., Am. J. Hum. Genet. , 18(6), 584-93, 1966 PubMed
- Mehrotra TN, Gupta SC, Sinha R, Haemoglobin norfolk in nepali gorkhas., Humangenetik , 27(4), 347-9, 1975 PubMed
- 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
- 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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-09 17:45:00 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-03-31 10:56:20 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 5 | 2021-04-07 11:13:34 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07