IthaID: 400


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;CD 109 CTG>CGG HGVS Name: N/A
Hb Name: Hb Suan Dok Protein Info: N/A

Also known as:

Comments: The missense mutation HBA2:c.329T>G found in the context of a −α3.7 thalassaemia chromosome.

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 1 bp
Located at: α3.7 hybrid
Specific Location: N/A

Other details

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

Publications / Origin

  1. Moradkhani K, Mazurier E, Giordano PC, Wajcman H, Préhu C, An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene., Hemoglobin, 32(4), 419-24, 2008
Created on 2010-06-16 16:13:15, Last reviewed on 2021-11-04 11:33:57 (Show full history)

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