IthaID: 380


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 61 (-AAG) HGVS Name: HBA1:c.184_186del
Hb Name: Hb Clinic Protein Info: α1 61(E10) Lys->0

Context nucleotide sequence:
TGCCCAGGTTAAGGGCCACGGCAAG [AAG/-] GTGGCCGACGCGCTGACCAACGCCG (Strand: +)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α+/α0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37880
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Ayala S, Colomer D, Gelpí JL, Corrons JL, alpha-Thalassaemia due to a single codon deletion in the alpha1-globin gene. Computational structural analysis of the new alpha-chain variant. Mutations in brief no. 132. Online., Human mutation, 11(5), 412, 1998
Created on 2010-06-16 16:13:15, Last reviewed on 2023-08-04 13:24:14 (Show full history)

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