IthaID: 1294

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 143 (-A) HGVS Name: HBB:c.431delA
Hb Name: Hb Saverne Protein Info: β 143 (-A); modified C-terminal sequence: (143)Pro-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(156)Tyr-COOH

Context nucleotide sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 72005
Size: 1 bp
Located at: β
Specific Location: Exon 3


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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Delanoe-Garin J, Blouquit Y, Arous N, Kister J, Poyart C, North ML, Bardakdjian J, Lacombe C, Rosa J, Galacteros F, Hemoglobin Saverne: a new variant with elongated beta chains: structural and functional properties., Hemoglobin, 12(4), 337-52, 1988 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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