IthaID: 485
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 23 GAG>AAG [Glu>Lys] | HGVS Name: | HBA1:c.70G>A | HBA2:c.70G>A |
Hb Name: | Hb Chad | Protein Info: | α2 or α1 23(B4) Glu>Lys |
Context nucleotide sequence:
GGGTAAGGTCGGCGCGCACGCTGGC [A/C/G/T] AGTATGGTGCGGAGGCCCTGGAGAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGKYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb E-Keelung
Comments: A GAG->AAG mutation at codon 23 of the -alpha(3.7 kb) alpha-thal-2 gene has been reported in a family from Surinam (Codrington JF et al., 1989)
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 33845 or 37649 |
Size: | 1 bp or 1 bp |
Located at: | α1 or α2 |
Specific Location: | Exon 1 |
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | African, Chinese, Japanese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
HPLC
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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 | ||
---|---|---|---|---|---|---|---|---|---|
93 | Hb Chad | α1 or α2 | D-10 | Dual Kit Program | 22.5 | 4.49 | Heterozygous. Clinically normal. | [PDF] | |
94 | Hb Chad | α1 or α2 | VARIANT | β-thal Short Program | 25.2 | 4.89 | Heterozygous. Clinically normal. | [PDF] | |
95 | Hb Chad | α1 or α2 | VARIANT II | β-thal Short Program | 23.6 | 4.96 | Heterozygous. Clinically normal. | [PDF] | |
96 | Hb Chad | α1 or α2 | VARIANT II | Dual Kit Program | 20.6 | 4.115 | Heterozygous. Clinically normal. | [PDF] |
Sequence Viewer
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Publications / Origin
- Boyer SH, Crosby EF, Fuller GF, Ulenurm L, Buck AA, A survey of hemoglobins in the Republic of Chad and characterization of hemoglobin Chad:alpha-2-23Glu--Lys-beta-2., Am. J. Hum. Genet. , 20(6), 570-8, 1968 PubMed
- Blackwell RQ, Weng MI, Huang JT, Haemoglobin Chad, alpha23 GLU leads to LYS, in a Chinese family in Taiwan., Trop Geogr Med , 25(4), 393-6, 1973 PubMed
- Codrington JF, Codrington FA, Wisse JH, Wilson JB, Webber BB, Wong SC, Huisman TH, Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S., Hemoglobin , 13(6), 543-56, 1989 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2017-04-10 14:33:55 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2014-03-13 09:37:28 | The IthaGenes Curation Team | Reviewed. |
3 | 2017-04-10 14:33:55 | The IthaGenes Curation Team | Reviewed. Mutation Names/DNA Info added. |
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IthaGenes was last updated on 2021-01-22 12:22:59