IthaID: 775
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 139 (-A) | HGVS Name: | HBA2:c.420delA |
| Hb Name: | Hb Wayne | Protein Info: | α2 139 (-A); modified C-terminal sequence: (139)Asn-Thr-Val-Lys-Leu-Glu-Pro-(146)Arg-COOH |
Context nucleotide sequence:
CTGTGAGCACCGTGCTGACCTCCAA [A/-] TACCGTTAAGCTGGAGCCTCGGTGG (Strand: +)
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34454 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Caucasian |
| 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
- Nachmansohn D, Transduction of chemical into electrical energy., Proc. Natl. Acad. Sci. U.S.A. , 73(1), 82-5, 1976 PubMed
- Huisman TH, Headlee MG, Wilson JB, Lam H, Johnson SE, Webber BB, Hb Wayne, the frameshift variant with extended alpha chains observed in a Caucasian family from Alabama., Hemoglobin , 8(1), 1-15, 1984 PubMed
- Moo-Penn WF, Jue DL, Johnson MH, McDonald MJ, Turci SM, Shih TB, Jones RT, Therrell BL, Arnone A, Structural and functional studies of hemoglobin Wayne: an elongated alpha-chain variant., J Mol Biol, 180(4), 1119-40, 1984 PubMed
- Rodríguez-Capote K, Estey MP, Barakauskas VE, Burton T, Holmes D, Krause R, Higgins TN, Identification of Hb Wayne and its effects on HbA1c measurement by 5 methods., Clin Biochem, 48(0), 1144-50, 2015 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 16:13:16,
Last reviewed on 2023-12-19 15:25:13 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-15 12:49:56 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, reference and ClinVar link. |
| 4 | 2021-04-07 12:48:47 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. References added. |
| 5 | 2023-12-19 15:25:13 | The IthaGenes Curation Team | Reviewed. Reference added |
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IthaGenes was last updated on 2024-10-29 15:59:14