IthaID: 959


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 46 GGG>GAG HGVS Name: HBB:c.140G>A
Hb Name: Hb K-Ibadan Protein Info: β 46(CD5) Gly>Glu

Context nucleotide sequence:
ACCCAGAGGTTCTTTGAGTCCTTTG [A/G] GGATCTGTCCACTCCTGATGCTGTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFEDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70864
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: African Yoruba | Italian
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
233Hb K-IbadanβD-10Dual Kit Program7.81.38Heterozygote. Clinically normal.[PDF]
234Hb K-IbadanβVARIANTβ-thal Short Program321.99Heterozygote. Clinically normal.[PDF]

Publications / Origin

  1. 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 2013-10-15 17:00:14 (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.