IthaID: 1040

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 73 GAT>AAT	HGVS Name:	HBB:c.220G>A
Hb Name:	Hb G-Accra	Protein Info:	β 73(E17) Asp>Asn

Context nucleotide sequence:
CAAGAAAGTGCTCGGTGCCTTTAGT [A/G/T] ATGGCCTGGCTCACCTGGACAACCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSNGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Korle-Bu

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70944
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

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

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.

ID	Hb Variant	Gene	Instrument	Method	Area (%)	Ret Time (min)	Comments
384	Hb G-Accra	β	D-10	Dual Kit Program	40.6	3.53	Normal in the heterozygote.	[PDF]
385	Hb G-Accra	β	VARIANT	β-thal Short Program	43.9	3.88	Normal in the heterozygote.	[PDF]
386	Hb G-Accra	β	VARIANT II	β-thal Short Program	43.5	3.89	Normal in the heterozygote.	[PDF]
387	Hb G-Accra	β	VARIANT II	Dual Kit Program	43.1	3.144	Normal in the heterozygote.	[PDF]

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.

Frequencies

Publications / Origin

Konotey-Ahulu FI, Gallo E, Lehmann H, Ringelhann B, Haemoglobin Korle-Bu (beta 73 aspartic acid replaced by asparagine) showing one of the two amino acid substitutions of haemoglobin C Harlem., Journal of medical genetics, 5(2), 107-11, 1968 PubMed
Nagel RL, Lin MJ, Witkowska HE, Fabry ME, Bestak M, Hirsch RE, Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation [corrected]., Blood , 82(6), 1907-12, 1993 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-18 11:41:37 (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	2017-04-18 11:41:37	The IthaGenes Curation Team	Reviewed. Mutation Names/DNA Info added. Reference added.

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