IthaID: 932


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 38 ACC>CCC HGVS Name: HBB:c.115A>C
Hb Name: Hb Hazebrouck Protein Info: β 38(C4) Thr>Pro

Context nucleotide sequence:
TAGGCTGCTGGTGGTCTACCCTTGG [A/C] CCCAGAGGTTCTTTGAGTCCTTTGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWPQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70839
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: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
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: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Blouquit Y, Delanoe-Garin J, Lacombe C, Arous N, Cayre Y, Peduzzi J, Braconnier F, Galacteros F, Structural study of hemoglobin Hazebrouck, beta 38(C4)Thr----Pro. A new abnormal hemoglobin with instability and low oxygen affinity., FEBS letters, 172(2), 155-8, 1984
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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