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:
TGGTGGTCTACCCTTGGACCCAGAG [G/T] TTCTTTGAGTCCTTTGGGGATCTGT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQSFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	LOVD
ClinVar

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

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
392	Hb Austin	β	D-10	Dual Kit Program	43.8	1.47	Normal in the heterozygote.	[PDF]
393	Hb Austin	β	VARIANT	β-thal Short Program	45.6	1.64	Normal in the heterozygote.	[PDF]
394	Hb Austin	β	VARIANT II	β-thal Short Program	45.8	1.75	Normal in the heterozygote.	[PDF]
395	Hb Austin	β	VARIANT II	Dual Kit Program	44	1.592	Normal in the heterozygote.	[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

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
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)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2022-07-06 13:10:45	The IthaGenes Curation Team	Reviewed. HGVS name corrected. Reference added.

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