IthaID: 721

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu]	HGVS Name:	HBA1:c.337_351dup \| HBA2:c.337_351dup
Hb Name:	Hb Zaïre	Protein Info:	His-Leu-Pro-Ala-Glu- inserted between codons 116(GH4) and 117(GH5) of α1 or α2

Also known as:

Comments: The 15bp duplication found in a 36-year-old patient from Zaire, involving 5 tandemly repeated amino acids.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
OMIM

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34371 or 38182
Size:	15 bp or 15 bp
Located at:	α1 or α2
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Insertion)
Effect on Gene/Protein Function:	Frameshift (Translation)
Ethnic Origin:	Zairian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F, Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain., Human genetics, 89(6), 676-80, 1992

Created on 2010-06-16 16:13:16, Last reviewed on 2020-05-04 13:06:14 (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 17:44:17	The IthaGenes Curation Team	Reviewed. Added common name, reference and ClinVar link. Corrected size.
4	2020-04-29 21:37:42	The IthaGenes Curation Team	Reviewed. Chromosome and locus location corrected. HGVS name and comment added.
5	2020-04-30 16:44:24	The IthaGenes Curation Team	Reviewed. Type of mutation corrected.
6	2020-05-04 13:06:14	The IthaGenes Curation Team	Reviewed. Specific location added.

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