IthaID: 578
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 60 AAG>AAT | HGVS Name: | HBA1:c.183G>T |
| Hb Name: | Hb Zambia | Protein Info: | α1 60(E9) Lys>Asn |
Context nucleotide sequence:
CTGCCCAGGTTAAGGGCCACGGCAA [G/T] AAGGTGGCCGACGCGCTGACCAACG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGNKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 29-year-old female Afghan patient with compound heterozygosity in cis with the HBA1:c184A>T,p.Lys62* [IthaID: 3334] in addition to the common deletions α4.2 and α3.7, leading to non-deletional Hb H genotype. She received regular blood transfusions since her childhood [PMID: 29739111, info only from abstract].
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: | 37879 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Zambian, Afghan |
| 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
- Barclay GP, Charlesworth D, Lehmann H, Abnormal haemoglobins in Zambia. A new haemoglobin Zambia alpha-60 (E9) lysine--asparagine., Br Med J , 4(5683), 595-6, 1969 PubMed
- Holtkamp N, Pistioli A, Rasenack T, Kiesewetter H, Heinze KG, Identification of a Novel Nonsense Mutation in a Patient with Transfusion-Dependent Hb H Disease., Clin. Lab. , 64(3), 371-374, 2018 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-11 14:32:25 (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 18:06:40 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2018-05-23 19:21:03 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
| 5 | 2021-03-11 12:07:42 | The IthaGenes Curation Team | Reviewed. HGVS, common names and selected gene corrected. |
| 6 | 2021-03-11 12:08:40 | The IthaGenes Curation Team | Reviewed. Protein info corrected. |
| 7 | 2021-03-11 14:32:25 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07