IthaID: 843

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 11 GTT>ATT	HGVS Name:	HBB:c.34G>A
Hb Name:	Hb Hamilton	Protein Info:	β 11(A8) Val>Ile

Context nucleotide sequence:
TCTGACTCCTGAGGAGAAGTCTGCC [A/G/T] TTACTGCCCTGTGGGGCAAGGTGAA (Strand: -)

Protein sequence:
MVHLTPEEKSAITALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar

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:	70628
Size:	1 bp
Located at:	β
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Austrian \| Chinese \| Sardinian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

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
	118	Hb Hamilton	β	VARIANT II	β-thal Short Program	87.4	2.55	Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies.	[PDF]
	119	Hb Hamilton	β	VARIANT II	Dual Kit Program	86	1.789	Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies.	[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

Wong SC, Ali MA, Lam H, Webber BB, Wilson JB, Huisman TH, Hemoglobin Hamilton or alpha 2 beta 2 11(A8)Val leads to Ile: a silent beta-chain variant detected by Triton X-100 acid-urea polyacrylamide gel electrophoresis., American journal of hematology, 16(1), 47-52, 1984 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (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.

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