IthaID: 837



Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70623
Size: 1 bp
Located at: β
Specific Location: Exon 1

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

Other details

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

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]
152Hb Brem-sur-MerβVARIANT IIDual Kit Program1.53.027Clinically 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]

Sequence Viewer

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

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