IthaID: 941

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 40 AGG>AGT [Arg>Ser] HGVS Name: HBB:c.123G>T
Hb Name: Hb Austin Protein Info: β 40(C6) Arg>Ser

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70847
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: Mexican
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


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
392Hb AustinβD-10Dual Kit Program43.81.47Normal in the heterozygote.[PDF]
393Hb AustinβVARIANTβ-thal Short Program45.61.64Normal in the heterozygote. [PDF]
394Hb AustinβVARIANT IIβ-thal Short Program45.81.75Normal in the heterozygote. [PDF]
395Hb AustinβVARIANT IIDual Kit Program441.592Normal in the heterozygote. [PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Johnson MH, Bechtel KC, Jue DL, Therrell BL, Schmidt RM, Hemoglobins Austin and Waco: two hemoglobins with substitutions in the alpha 1 beta 2 contact region., Archives of biochemistry and biophysics, 179(1), 86-94, 1977 PubMed
  2. Smith DL, Mitui M, Park JY, Luu HS, Timmons CF, Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype., Hemoglobin , 40(1), 25-8, 2016 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-07-06 13:10:45 (Show full history)

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