IthaID: 668

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 92 CGG>CAG [Arg>Gln]	HGVS Name:	HBA1:c.278G>A
Hb Name:	Hb J-Cape Town	Protein Info:	α1 92(FG4) Arg>Gln

Context nucleotide sequence:
AGCGACCTGCACGCGCACAAGCTTC [G/A] GGTGGACCCGGTCAACTTCAAGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLQVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	dbSNP
OMIM	SwissVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	N/A
Oxygen Affinity:	Increased Oxygen Affinity
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37973
Size:	1 bp
Located at:	α1
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Japanese, South African, Italian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

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

Botha MC, Beale D, Isaacs WA, Lehmann H, Hemoglobin J Cape Town-alpha-2 92 arginine replaced by glutamine beta-2., Nature , 212(5064), 792-5, 1966 PubMed
Ogawa S, Shulman RG, Kynoch PA, Lehmann H, High resolution nuclear magnetic resonance studies of haemoglobin J Capetown., Nature , 225(5237), 1042-3, 1970 PubMed
Charache S, Jenkins T, Oxygen equilibrium of hemoglobin J Cape Town., J. Clin. Invest. , 50(7), 1554-5, 1971 PubMed
Nagel RL, Gibson QH, Jenkins T, Ligand binding in hemoglobin J Capetown., J. Mol. Biol. , 58(3), 643-50, 1971 PubMed
Botha MC, Stathopoulou R, Lehmann H, Rees JS, Plowman D, A Hb J Cape Town homozygote--association of Hb J Cape Town and alpha-thalassaemia., FEBS Lett. , 96(2), 331-4, 1978 PubMed
Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
Pagano L, Flagiello A, Tedesco R, Ammirabile M, Pollio F, Prossomariti L, Giambona A, Passarello C, Pucci P, Hb J-Cape Town [alpha92(FG4)Arg-->Gln (alpha1), CGG-->CAG] in Southern Italy found in a patient with erythrocytosis., Hemoglobin , 31(2), 113-20, 2007 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:09:10 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-14 11:38:36	The IthaGenes Curation Team	Reviewed. Added references, common name, allele phenotype and ClinVar link.
4	2021-04-07 12:09:10	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Origin added.

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