IthaID: 907



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 30 AGG>AGT [Arg>Ser] HGVS Name: HBB:c.93G>T
Hb Name: Hb Tacoma Protein Info: β 30(B12) Arg>Ser

Context nucleotide sequence:
TATTGGTCTATTTTCCCACCCTTAG [C/G/T] CTGCTGGTGGTCTACCCTTGGACCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGSLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Arg>Ser substitution at position β30 (B12), which forms a site of the α1β1 interchain contact. Alteration of the α1β1 interface disrupts dimer formation with subsequent accumulation of free globin subunits. Slightly unstable in the isopropanol test. Normal haematological findings.

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70817
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | Finnish | Russian | Swedish | Japanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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
339Hb TacomaβD-10Dual Kit Program67.51.7[PDF]
342Hb TacomaβVARIANT IIDual Kit Program67.11.77Heterozygote carriers are clinically normal. [PDF]
340Hb TacomaβVARIANTβ-thal Short Program72.12.41Heterozygote carriers are clinically normal.[PDF]
341Hb TacomaβVARIANT IIβ-thal Short Program71.42.41Heterozygote carriers are clinically normal.[PDF]

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

  1. Harano K, Harano T, Ueda S, Mori H, Shibata S, Takeda I, Tsunematsu T, Hb Tacoma [beta 30(B12) Arg----Ser], a slightly unstable hemoglobin variant found in Japan., Hemoglobin, 9(6), 635-9, 1985 PubMed
  2. Landin B, Jeppsson JO, Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis., Hemoglobin, 17(4), 303-18, 1993 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-06-24 12:54:32 (Show full history)

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.

Please publish modules in offcanvas position.