IthaID: 2304


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 102 AGC>AAC (Ser>Asn) HGVS Name: HBA2:c.308G>A
Hb Name: Hb Enschede Protein Info: α2 102 Ser>Asn

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLNHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a non-anaemic adult male originating from Lebanon with normal haematological parameters. In Hb Enschede, a substitution of one uncharged polar amino acid by another results in normal expression (24.0%).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34342
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. van Zwieten R, Veldthuis M, Delzenne B, Berghuis J, Groen J, Ait Ichou F, Clifford E, Harteveld CL, Stroobants AK, Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones., Hemoglobin , 2013
Created on 2014-01-08 16:59:48, Last reviewed on 2020-04-10 20:23:02 (Show full history)

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