IthaID: 1257

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 132 AAA>CAA [Lys>Gln]	HGVS Name:	HBB:c.397A>C
Hb Name:	Hb K Woolwich	Protein Info:	β 132(H10) Lys>Gln

Context nucleotide sequence:
CCCACCAGTGCAGGCTGCCTATCAG [A/C/G/T] AAGTGGTGGCTGGTGTGGCTAATGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQQVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	OMIM
SwissVar	LOVD

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-thalassaemia, β-chain variant
Allele Phenotype:	Dominant
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71971
Size:	1 bp
Located at:	β
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	African
Molecular mechanism:	N/A
Inheritance:	Dominant
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
141	Hb K Woolwich	β	D-10	Dual Kit Program	33.5	0.65
142	Hb K Woolwich	β	VARIANT	β-thal Short Program	35.2	1.29	Clinically and hematologically normal.	[PDF]
143	Hb K Woolwich	β	VARIANT II	β-thal Short Program	34.4	1.29	Clinically and hematologically normal.	[PDF]
144	Hb K Woolwich	β	VARIANT II	Dual Kit Program	37.2	0.859	Clinically and hematologically normal.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Ringelhann B, Konotey-Ahulu FI, Talapatra NC, Nkrumah FK, Wiltshire BG, Lehmann H, Haemoglobin K Woolwich (alpha 2, beta 2 132 lysine leads to glutamine) in Ghana., Acta haematologica, 45(4), 250-8, 1971 PubMed
Cabannes R, Amegnizin P, Sangare A, Arne D, Casey R, Lehmann H, Haemoglobin K Woolwich: a study of the family of a homozygote., J. Med. Genet. , 17(3), 183-6, 1980 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2014-05-09 09:17:17 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-05-09 09:17:17	The IthaGenes Curation Team	Reviewed. ClinVar link added.

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