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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

OMIM

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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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