IthaID: 837

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 9 TCT>TAT	HGVS Name:	HBB:c.29C>A
Hb Name:	Hb Brem-sur-Mer	Protein Info:	β 9(A6) Ser>Tyr

Context nucleotide sequence:
GTGCATCTGACTCCTGAGGAGAAGT [A/C/G] TGCCGTTACTGCCCTGTGGGGCAAG (Strand: -)

Protein sequence:
MVHLTPEEKYAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-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:	11
Locus:	NG_000007.3
Locus Location:	70623
Size:	1 bp
Located at:	β
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	French
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

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
149	Hb Brem-sur-Mer	β	D-10	Dual Kit Program	72	1.72	Clinically and hematologically normal. Elutes as HbA.	[PDF]
150	Hb Brem-sur-Mer	β	VARIANT	β-thal Short Program	72.1	2.4	Clinically and hematologically normal. Elutes as HbA.	[PDF]
151	Hb Brem-sur-Mer	β	VARIANT II	β-thal Short Program	76.5	2.58	Clinically and hematologically normal. Elutes as HbA.	[PDF]
152	Hb Brem-sur-Mer	β	VARIANT II	Dual Kit Program	1.5	3.027	Clinically and hematologically normal. Elutes as HbA.	[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

Lacan P, Moreau M, Becchi M, Zanella-Cleon I, Aubry M, Louis JJ, Couprie N, Francina A, Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)]., Hemoglobin, 29(1), 69-75, 2005 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (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.

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