IthaID: 960

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 47 GAT>AAT [Asp>Asn]	HGVS Name:	HBB:c.142G>A
Hb Name:	Hb G-Copenhagen	Protein Info:	β 47(CD6) Asp>Asn

Context nucleotide sequence:
CCAGAGGTTCTTTGAGTCCTTTGGG [G/A] ATCTGTCCACTCCTGATGCTGTTAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGNLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	LOVD
ClinVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-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:	11
Locus:	NG_000007.3
Locus Location:	70866
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:	American \| African \| Danish \| Sicilian
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
405	Hb G-Copenhagen	β	D-10	Dual Kit Program	44.6	2.91	Clinically normal. Elutes together with HbA2.	[PDF]
406	Hb G-Copenhagen	β	VARIANT	β-thal Short Program	40.6	3.74	Clinically normal. Elutes together with HbA2.	[PDF]
407	Hb G-Copenhagen	β	VARIANT II	β-thal Short Program	39.2	3.75	Clinically normal. Elutes together with HbA2.	[PDF]
408	Hb G-Copenhagen	β	VARIANT II	Dual Kit Program	38.8	2.896	Clinically normal. Elutes together with HbA2.	[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.

Publications / Origin

Sick K, Beale D, Irvine D, Lehmann H, Goodall PT, MacDougall S, Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A., Biochimica et biophysica acta, 140(2), 231-42, 1967 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2023-03-21 14:57:40 (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	2023-03-21 14:57:40	The IthaGenes Curation Team	Reviewed. Link added

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