IthaID: 536

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 45 CAC>CGC [His>Arg]	HGVS Name:	HBA1:c.137A>G
Hb Name:	Hb Fort de France	Protein Info:	α1 45(CE3) His>Arg

Context nucleotide sequence:
CCCACCACCAAGACCTACTTCCCGC [A/G] CTTCGACCTGAGCCACGGCTCTGCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPRFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	OMIM
SwissVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37833
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:	French West Indies
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
226	Hb Fort de France	α1	D-10	Dual Kit Program	64.1	1.66	Heterozygote. Elutes in the window of HbA2.	[PDF]
227	Hb Fort de France	α1	VARIANT	β-thal Short Program	16.3	3.52	Heterozygote. Elutes in the window of HbA2.	[PDF]
232	Hb Fort de France	α1	D-10	Dual Kit Program	16.1	3.06	Compound heterozygote. In this case HbA0 is a result of transfusion.	[PDF]

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

Braconnier F, Gacon G, Thillet J, Wajcman H, Soria J, Maigret P, Labie D, Rosa J, Hemoglobin Fort de France (alpha2(45)(CD3) His replaced by Arg beta2). A new variant with increased oxygen affinity., Biochim. Biophys. Acta , 493(1), 228-33, 1977 PubMed
Cash FE, Monplaisir N, Goossens M, Liebhaber SA, Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val)., Blood , 74(2), 833-5, 1989 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-04 12:50:26 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-03-27 12:39:25	The IthaGenes Curation Team	Reviewed.
4	2021-03-04 12:50:26	The IthaGenes Curation Team	Reviewed. HGVS and protein name corrected.

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