IthaID: 416



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 131 (+T) >175aa HGVS Name: HBA1:c.396_397insT
Hb Name: Hb Pak Num Po Protein Info: α1 131(+T); modified C-terminal sequence: (132)Cys-Glu-His-Arg-Ala-Asp-Leu-Gln- Ile-Pro-Leu-Ser-Trp-Ser-Leu-Gly-Gly-His- Ala-Ser-Cys-Pro-Leu-Gly-Leu-Pro-Pro-Ala- Pro-Pro-Pro-Leu-Pro-Ala-Pro-Val-Pro-Pro- Trp-Ser-Leu-Asn-Lys-(175)Val-COOH

Context nucleotide sequence:
CTCCCTGGACAAGTTCCTGGCTTCT [-/T] GTGAGCACCGTGCTGACCTCCAAAT (Strand: +)

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38241
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α0
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Thai
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Viprakasit V, Tanphaichitr VS, Veerakul G, Chinchang W, Petrarat S, Pung-Amritt P, Higgs DR, Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease., American journal of hematology, 75(3), 157-63, 2004 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2017-06-01 16:04:25 (Show full history)

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