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

Comments: The 9bp duplication found in a black 25-year-old woman and her father, involving 3 tandemly repeated amino acids.

External Links

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

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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)

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