IthaID: 249


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 125 (-A) >156aa HGVS Name: HBB:c.378delA
Hb Name: N/A Protein Info: β 125 (-A); modified C-terminal sequence: (125)Pro-Cys-Arg-Leu-Pro-Ile-Arg-Lys-Trp-Trp- Leu-Val-Trp-Leu-Met-Pro-Trp-Pro-Thr-Ser- Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn- Phe-(156)Tyr-COOH

Context nucleotide sequence:
ACTTTGGCAAAGAATTCACCCCACC [-/A/T] GTGCAGGCTGCCTATCAGAAAGTGG (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71952
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Japanese
Inheritance: Dominant
DNA Sequence Determined: No
Detection Methods: MLPA

Frequencies

Publications / Origin

  1. Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H, beta-thalassemia mutations in Japanese and Koreans., Hemoglobin, 21(2), 191-200, 1997
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 14:58:22 (Show full history)

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