IthaID: 1130



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 97 CAC>CAA, also CAC>CAG HGVS Name: HBB:c.294C>A | HBB:c.294C>G
Hb Name: Hb Malmö Protein Info: β 97(FG4) His>Gln

Context nucleotide sequence:
GTGAGCTGCACTGTGACAAGCTGCA [A/C/G/T] GTGGATCCTGAGAACTTCAGGGTGA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLQVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71018
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: American | Dutch | English | German | Swedish
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
163Hb MalmöβVARIANT IIβ-thal Short Program18.31.7High oxygen affinity variant, leads to erythrocytosis. Elutes together with HbA or before according to the chromatographic system used. [PDF]
164Hb MalmöβVARIANT IIDual Kit Program46.21.427High oxygen affinity variant, leads to erythrocytosis. Elutes together with HbA or before according to the chromatographic system used. [PDF]

Sequence Viewer

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Publications / Origin

  1. Landin B, Berglund S, Wallman K, Two different mutations in codon 97 of the beta-globin gene cause Hb Malmö in Sweden., American journal of hematology, 51(1), 32-6, 1996 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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