IthaID: 1297

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 143 CAC>TAC	HGVS Name:	HBB:c.430C>T
Hb Name:	Hb Old Dominion/Burton-upon-Trent (OD/BuT)	Protein Info:	β 143(H21) His>Tyr

Context nucleotide sequence:
GGCTGGTGTGGCTAATGCCCTGGCC [A/C/G/T] ACAAGTATCACTAAGCTCGCTTTCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAYKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	LOVD

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:	72004
Size:	1 bp
Located at:	β
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Irish \| Scottish
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
343	Hb Old Dominion/Burton-upon-Trent (OD/BuT)	β	D-10	Dual Kit Program	36.3	1.52	heterozygote	[PDF]
344	Hb Old Dominion/Burton-upon-Trent (OD/BuT)	β	VARIANT	β-thal Short Program	32.6	1.85	heterozygote	[PDF]
345	Hb Old Dominion/Burton-upon-Trent (OD/BuT)	β	VARIANT II	β-thal Short Program	33.2	1.88	heterozygote	[PDF]
346	Hb Old Dominion/Burton-upon-Trent (OD/BuT)	β	VARIANT II	Dual Kit Program	38.9	1.58	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

Elder GE, Lappin TR, Horne AB, Fairbanks VF, Jones RT, Winter PC, Green BN, Hoyer JD, Reynolds TM, Shih DT, McCormick DJ, Kubik KS, Madden BJ, Head CG, Harvey D, Roberts NB, Hemoglobin Old Dominion/Burton-upon-Trent, beta 143 (H21) His-->Tyr, codon 143 CAC-->TAC--a variant with altered oxygen affinity that compromises measurement of glycated hemoglobin in diabetes mellitus: structure, function, and DNA sequence., Mayo Clinic proceedings. Mayo Clinic, 73(4), 321-8, 1998 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.

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.