IthaID: 496
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 27 GAG>GGG [Glu>Gly] | HGVS Name: | HBA2:c.83A>G |
| Hb Name: | Hb Fort Worth | Protein Info: | α2 27(B8) Glu>Gly |
Context nucleotide sequence:
GCGCACGCTGGCGAGTATGGTGCGG [A/G] GGCCCTGGAGAGGTGAGGCTCCCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAGALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | 33858 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| 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
- Schneider RG, Brimhall B, Jones RT, Bryant R, Mitchell CB, Goldberg AI, Hb Ft. Worth: a27Glu changed to Gly(B8). A variant present in unusually low concentration., Biochim. Biophys. Acta , 243(2), 164-9, 1971 PubMed
- Carstairs KC, Raulfs A, Kutlar A, Chen SS, Webber BB, Wilson JB, Huisman TH, Hb Fort Worth or alpha2 27(B8)Glu----Gly beta2 in a black family from Canada., Hemoglobin , 9(2), 201-5, 1985 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:52:26 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-13 12:40:17 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-05-17 16:03:47 | The IthaGenes Curation Team | Reviewed. ClinVar link added. |
| 4 | 2021-04-07 09:52:26 | 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