IthaID: 351


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 21 GCT>TCT [Ala>Ser] HGVS Name: HBA2:c.64G>T
Hb Name: Hb Zoetermeer Protein Info: α2 21(B2) Ala>Ser

Context nucleotide sequence:
CGCCTGGGGTAAGGTCGGCGCGCAC [C/G/T] CTGGCGAGTATGGTGCGGAGGCCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHSGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33839
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Harteveld CL, van Helden WC, Boxma GL, van Delft P, Bakker-Verweij M, Wajcman H, Zanella-Cleon I, Becchi M, Giordano PC, Hb Zoetermeer: a new mutation on the alpha2 gene inducing an Ala-->Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype., Hemoglobin, 31(3), 325-32, 2007
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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