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:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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: 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


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
343Hb Old Dominion/Burton-upon-Trent (OD/BuT)βD-10Dual Kit Program36.31.52heterozygote[PDF]
344Hb Old Dominion/Burton-upon-Trent (OD/BuT)βVARIANTβ-thal Short Program32.61.85heterozygote[PDF]
345Hb Old Dominion/Burton-upon-Trent (OD/BuT)βVARIANT IIβ-thal Short Program33.21.88heterozygote[PDF]
346Hb Old Dominion/Burton-upon-Trent (OD/BuT)βVARIANT IIDual Kit Program38.91.58heterozygote[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. 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)

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