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

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

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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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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