IthaID: 941



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 40 AGG>AGC or AGT HGVS Name: HBB:c.123G>C | HBB:c.123G>T
Hb Name: Hb Austin Protein Info: β 40(C6) Arg>Ser

Context nucleotide sequence:
TGGTGGTCTACCCTTGGACCCAGAG [C/G/T] TTCTTTGAGTCCTTTGGGGATCTGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQSFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70847
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: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Mexican
Inheritance: Recessive
DNA Sequence Determined: No
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
392Hb AustinβD-10Dual Kit Program43.81.47Normal in the heterozygote.[PDF]
395Hb AustinβVARIANT IIDual Kit Program441.592Normal 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]

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. 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
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.

Please publish modules in offcanvas position.