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