IthaID: 723
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 118-119 +9 bp [+Glu-Phe-Thr] | HGVS Name: | HBA1:c.349_357dup |
| Hb Name: | Hb Grady | Protein Info: | Glu-Phe-Thr- inserted between codons 118(H1) and 119(H2) of α1 |
| Also known as: | Hb Dakar |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The 9bp duplication found in a black 25-year-old woman and her father, involving 3 tandemly repeated amino acids.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38194 |
| Size: | 9 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | African, Mauritanian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Huisman TH, Wilson JB, Gravely M, Hubbard M, Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues., Proc. Natl. Acad. Sci. U.S.A. , 71(8), 3270-3, 1974
- Huisman TH, Miller A, Hb Grady and alpha thalassemia: a contribution to the problem of the number of Hb alpha structural loci in man., Am. J. Hum. Genet. , 28(4), 363-9, 1976
- Garel MC, Goossens M, Oudart JL, Blouquit Y, Thillet J, Rosa J, Hemoglobin Dakar = Hb Grady: demonstration by a new approach to the analysis of the tryptic core region of the alpha chain and oxygen equilibrium properties., Biochim. Biophys. Acta , 453(2), 459-71, 1976
- Scott AF, Phillips JA, Young KE, Kazazian HH, Smith KD, Charache S, Clegg JB, The molecular basis of hemoglobin Grady., Am. J. Hum. Genet. , 33(1), 129-33, 1981
- Cleek MP, Gardiner MB, Reese AL, Harris HF, Felice AE, Huisman TH, The Atlanta family with hemoglobin Grady revisited., Am. J. Hum. Genet. , 35(6), 1314-6, 1983
- Delacour H, Konopacki J, Plantamura J, Lacan P, Joly P, Hb Hope [β136Gly→Asp] and Hb Grady [α119_120insGluPheThr] compound heterozygosity in a Mauritanian patient., Clin Chem Lab Med, 54(2), e35-6, 2016
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 12:34:17 (Show full history)
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