IthaID: 395


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 104 TGC>AGC [Cys>Ser] HGVS Name: HBA1:c.313T>A
Hb Name: Hb Oegstgeest Protein Info: α1 104(G11) Cys>Ser

Context nucleotide sequence:
CTTCTCTGCACAGCTCCTAAGCCAC [A/T] GCCTGCTGGTGACCCTGGCCGCCCA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHSLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38158
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Harteveld CL, Vervloet M, Zweegman S, van Delft P, Akkermans N, Arkestijn S, Giordano PC, Hb Amsterdam [alpha32(B13)Met--Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism., Hemoglobin, 29(4), 257-62, 2005
Created on 2010-06-16 16:13:15, Last reviewed on 2014-05-14 09:14:24 (Show full history)

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