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:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

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.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.