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

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

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
149Hb Brem-sur-MerβD-10Dual Kit Program721.72Clinically and hematologically normal. Elutes as HbA.[PDF]
150Hb Brem-sur-MerβVARIANTβ-thal Short Program72.12.4Clinically and hematologically normal. Elutes as HbA. [PDF]
151Hb Brem-sur-MerβVARIANT IIβ-thal Short Program76.52.58Clinically and hematologically normal. Elutes as HbA. [PDF]
152Hb Brem-sur-MerβVARIANT IIDual Kit Program1.53.027Clinically and hematologically normal. Elutes as HbA. [PDF]

In silico pathogenicity prediction

Publications / Origin

  1. 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
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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.