IthaID: 724


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 117/118 +ATC [+Ile] HGVS Name: HBA1:c.354_355insATC
Hb Name: Hb Phnom Penh Protein Info: I- inserted between codons 117(GH5) and 118(H1) of α1

Also known as:

External Links

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]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38199
Size: 3 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Chinese, Cambodian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Zhai YS, Tang HS, Zhou JY, Li DZ, A novel case of Hb Phnom Penh: codons 117/118 (+ATC) as a cause of α+ -thalassemia., Hemoglobin , 36(3), 289-92, 2012
Created on 2010-06-16 16:13:16, Last reviewed on 2017-01-24 12:56:16 (Show full history)

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