IthaID: 3370


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 140 GCC>ACC [Ala>Thr] AND CD 139 (-AAT) HGVS Name: HBB:c.[421G>A;418_420delAAT]
Hb Name: Hb Templeuve Protein Info: β 140(H18) Ala>Thr AND β 139(H17) Asn->0

Also known as:

Comments: Found in a heterozygous state.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71992 or 71995
Size: 3 bp or 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Rose C, Bauters F, Galacteros F, Hydroxyurea therapy in highly unstable hemoglobin carriers., Blood, 88(7), 2807-8, 1996
Created on 2019-04-05 12:40:38, Last reviewed on (Show full history)

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