IthaID: 419


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 142 (TAA>AAA) >172aa HGVS Name: HBA2:c.427T>A
Hb Name: Hb Icaria Protein Info: α2 142, Stop>Lys; modified C-terminal sequence: (142)Lys-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(172)Glu-COOH

Context nucleotide sequence:
CACCGTGCTGACCTCCAAATACCGT [A/C/G/T] AAGCTGGAGCCTCGGTAGCCGTTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYRK

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34461
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Clegg JB, Weatherall DJ, Contopolou-Griva I, Caroutsos K, Poungouras P, Tsevrenis H, Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia., Nature, 251(5472), 245-7, 1974
  2. Efremov GD, Josifovska O, Nikolov N, Codrington JF, Oner C, Gonzalez-Redondo JM, Huisman TH, Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA., Br. J. Haematol. , 75(2), 250-3, 1990
Created on 2010-06-16 16:13:15, Last reviewed on 2015-07-02 17:48:28 (Show full history)

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