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)

External Links

HbVar	dbSNP
dbSNP	OMIM
SwissVar

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

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
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

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

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.

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.