IthaID: 422



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 142 (TAA>TAT) >172aa HGVS Name: HBA2:c.429A>T
Hb Name: Hb Paksé Protein Info: α2 142, Stop>Tyr; modified C-terminal sequence: (142)Tyr-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:
CCGTGCTGACCTCCAAATACCGTTA [A/T] GCTGGAGCCTCGGTAGCCGTTCCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYRY

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34463
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Laotian Thai
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Waye JS, Eng B, Olivieri NF, Chui DH, Identification of a novel beta O-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis., Prenatal diagnosis, 14(10), 929-32, 1994 PubMed
  2. Viprakasit V, Tanphaichitr VS, Pung-Amritt P, Petrarat S, Suwantol L, Fisher C, Higgs DR, Clinical phenotypes and molecular characterization of Hb H-Paksé disease., Haematologica , 87(2), 117-25, 2002 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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