IthaID: 764

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 136 CTG>ATG [Leu>Met] HGVS Name: HBA2:c.409C>A
Hb Name: Hb Chicago Protein Info: α2 136(H19) Leu>Met

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34443
Size: 1 bp
Located at: α2
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: Recessive
DNA Sequence Determined: No


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
190Hb Chicagoα2D-10Dual Kit Program82.31.69Heterozygous. Elutes as HbA. [PDF]
191Hb Chicagoα2VARIANTβ-thal Short Program842.47Heterozygous. Elutes as HbA. [PDF]
192Hb Chicagoα2VARIANT IIβ-thal Short Program852.5Heterozygous. Elutes as HbA. [PDF]
193Hb Chicagoα2VARIANT IIDual Kit Program82.31.767Heterozygous. Elutes as HbA. [PDF]
194Hb Chicagoα2VARIANT IIDual Kit Program82.31.767Heterozygous. Elutes as HbA. [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

  1. Bowman JE, Bloom R, Chen SS, Webber BB, Wilson JB, Kutlar F, Kutlar A, Huisman TH, HB Chicago or alpha (2)136 (H19) Leu----Met beta 2 and a -G gamma-G gamma-globin gene arrangement in a black family., Hemoglobin , 10(5), 495-505, 1986 PubMed
  2. Gu LH, Wilson JB, Molchanova TP, McKie KM, McKie VC, Huisman TH, Three sickle cell anemia patients each with a different alpha chain variant. Diagnostic complications., Hemoglobin , 17(4), 295-301, 1993 PubMed
  3. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-01-30 09:53:06 (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.