IthaID: 907


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
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

Also known as:

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.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70817
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 | Finnish | Russian | Swedish | Japanese
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
339Hb TacomaβD-10Dual Kit Program67.51.7[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]
342Hb TacomaβVARIANT IIDual Kit Program67.11.77Heterozygote carriers are clinically normal. [PDF]

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
  2. Landin B, Jeppsson JO, Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis., Hemoglobin, 17(4), 303-18, 1993
Created on 2010-06-16 16:13:16, Last reviewed on 2019-06-24 12:54:32 (Show full history)

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