IthaID: 506

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 31 AGG>AGC or AGT [Arg>Ser] HGVS Name: HBA1:c.96G>C | HBA1:c.96G>T | HBA2:c.96G>C | HBA2:c.96G>T
Hb Name: Hb Prato Protein Info: α2 or α1 31(B12) Arg>Ser

Context nucleotide sequence:

Protein sequence:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33988 or 37792
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian, Taiwanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Marinucci M, Mavilio F, Massa A, Gabbianelli M, Fontanarosa PP, Camagna A, Ignesti C, Tentori L, A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2)., Biochim. Biophys. Acta , 578(2), 534-40, 1979 PubMed
  2. De Marco EV, Crescibene L, Pasqua A, Brancati C, Bria M, Qualtieri A, HB Prato [alpha 31(B12)Arg----Ser] in a Calabrian family., Hemoglobin , 16(4), 275-9, 1992 PubMed
  3. Shih MC, Peng CT, Chang JY, Liu SC, Kuo PL, Chang JG, Hb Prato [alpha31(B12)Arg --> Ser (A2)] and alpha-thalassemia in a Taiwanese., Hemoglobin , 27(1), 45-7, 2003 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 13:16:39 (Show full history)

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