IthaID: 341


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Init CD ATG>GTG HGVS Name: HBA1:c.1A>G
Hb Name: N/A Protein Info: α1 nt 38 A>G

Context nucleotide sequence:
CCCACAGACTCAGAGAGAACCCACC [A/G] TGGTGCTGTCTCCTGCCGACAAGAC (Strand: +)

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37580
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: Mediterranean, Sardinian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Paglietti E, Galanello R, Moi P, Pirastu M, Cao A, Molecular pathology of haemoglobin H disease in Sardinians., Br. J. Haematol. , 63(3), 485-96, 1986
  2. Moi P, Cash FE, Liebhaber SA, Cao A, Pirastu M, An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype., The Journal of clinical investigation, 80(5), 1416-21, 1987
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-08 17:04:16 (Show full history)

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