IthaID: 485



Names and Sequences

Functionality: Globin gene causative mutation
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
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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
93Hb Chadα1 or α2D-10Dual Kit Program22.54.49Heterozygous. Clinically normal.[PDF]
96Hb Chadα1 or α2VARIANT IIDual Kit Program20.64.115Heterozygous. Clinically normal.[PDF]
94Hb Chadα1 or α2VARIANTβ-thal Short Program25.24.89Heterozygous. Clinically normal.[PDF]
95Hb Chadα1 or α2VARIANT IIβ-thal Short Program23.64.96Heterozygous. Clinically normal. [PDF]

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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
  3. 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)

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