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
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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-03-11 14:32:25 (Show full history)
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