IthaID: 723
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
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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
Comments: The 9bp duplication found in a black 25-year-old woman and her father, involving 3 tandemly repeated amino acids.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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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) |
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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
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
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 12:34:17 (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 | 2014-04-14 18:15:51 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype and size. |
4 | 2020-04-29 21:54:24 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location corrected. HGVS name and comment added. |
5 | 2020-04-30 16:30:13 | The IthaGenes Curation Team | Reviewed. Type of mutation corrected. |
6 | 2020-05-04 13:11:18 | The IthaGenes Curation Team | Reviewed. Specific location added. |
7 | 2021-04-07 12:33:43 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference and origin added. |
8 | 2021-04-07 12:34:17 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-08 13:09:20